Abstract
INDEX
BOOK OF ABSTRACTS - X Latin American Congress of Inborn Errors of Metabolism and Neonatal Screening ........1
P-1) Poster Session With Authors I........9
P001) Multiplex Analysis Using a Totally Automated System for Newborn Screening of Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, and Cystic Fibrosis in the Northeast of Brazil........9
P002) Newborn Screening for Biotinidase Deficiency Using a Totally Automated System and Enzymatic Analysis With Results Expressed in nmol/min/mL........9
P003) Newborn Screening for Maple Syrup Urine Disease (MSUD) Using a Totally Automated System........9
P004) Importance of Individualized Nutritional Calculation in Nephropathic Cystinosis: Comparison of Two Cases........10
P005) Biochemical Diagnosis of Non-Ketotic Hyperglycinemia in Cuba........10
P006) Mitochondrial Myopathy: TK2 Gene Depletion Syndrome........11
P007) Workflow Improvements Obtained With Automation of Traditional Newborn Screening Assays on the Perkinelmer GSP® High-Throughput System........11
P008) Creatine Kinase Muscle Isozyme Immunoassay for the Newborn Screening of Duchenne Muscular Dystrophy........11
P009) Validation of Prescan Function of Autodelfia Software........12
P010) Experience With Sapropterin Treatment in PKU Patients........12
P011) BONE Mineral Density in Children With Maple Syrup Urine Disease (MSUD)........13
P012) Genotype Analysis OF Phenylketonuria in Chile........13
P013) Evaluation of DNA Extraction Method and 11 Most-Common Mutations in the CYP21A2 Gene From Neonatal Dried Blood Spots Samples as a Confirmatory Method in Neonatal Screening (NS)........13
P014) Evaluation Of Neolisa® MSUD Kit in Maple Syrup Urine Disease Child Monitoring in a Reference Service for Newborn Screening........14
P015) Congenital Hypothyroidism. Progression of the Neonatal Screening Program in the Department of La Paz, Bolivia........14
P016) Distribution of the C.60+5G>T Danish Pathogenic Variant of PAH Gene Among Latin American PKU Patients and Phenotype Description of Resulting Homozygous State........14
P017) Evaluation of Homocysteine Levels in Cuban Patients With Homocystinuria and Methylmalonic Aciduria........15
P018) Organic Acidurias in Chile: Evaluation After a Year of Implementation of Urinary Organic Acids Test by Gas Chromatography-Mass Spectrometry (GC-MS)........15
P019) Transient Congenital Hypothyroidism due to Biallelic Defects in DUOX2 Gene........16
P020) Cobalamine C Deficiency. A Case Detected by Newborn Screening........16
P021) Neonatal Screening of Persistent Hyperphenylalaninemia: Strategies and Cut-Off Values........16
P022) Cognitive Assessment and Stimulation in Patients With Glutaric Acidemia Type 1, With Severe Neurological Impairment, by Using Technological Platform Games........17
P023) Glutaric Aciduria Type I (GA1), Clinical Characterization and Genetic Study of 11 Chilean Children........17
P024) Frequency Analysis of the N370S and L444P Mutations in Gaucher Disease Patients From Pará-Northern Brazil........18
P025) Objectives and Quality Requirements in Neonatal Screening Programs. A Relevant Tool in Public Health........18
P026) Neonatal Screening Program (NSP) in Zulia—Venezuela: Evaluation of Twelve Years of Experience........18
P027) Newborn Screening Experience for Galactosemia in México........19
P028) Neuronal Ceroid Lipofuscinosis-2 (CLN2) Disease, a Type of Batten Disease Caused by TPP1 Enzyme Deficiency: Current Knowledge of the Natural History From International Experts........19
P029) A Study on the Effects of Interrupting Enzyme Replacement Therapy on a Lysosomal Storage Disorder........20
P030) Nutritional Status and Carnitine Levels in Patients With Nephropatic Cystinosis........20
P031) Recommendations for Enzyme Replacement Therapy in Classical Phenotype of Fabry Disease in Latin America........21
P032) Regulation of the Antioxidant Enzymes Catalase and Glutathione Peroxidase 1 by Kinase C-ABL in Neuronal Models of Niemann-Pick C Disease........21
P033) Sphingomyelin Metabolism and Fibrosis Development in Livers of Niemann–Pick Type B Disease Patients and the Mouse Model........22
P034) Development of a New 17OH Progesterone Neonatal Umelisa Using Monoclonal Antibodies on the Solid Phase........22
P035) Standardization of a Molecular Method for Mutations Detection in the CFTR Gene in Patients With Cystic Fibrosis Suspicion in Southern Brazil........23
P036) Validation of the GSP 2021® for the Performance of Newborn Screening Tests in Southern Brazil........23
P037) Peroxisomal Disorders With Neonatal Presentation: Clinical Features, Imaging Findings and Lab Tests in a Series of Chilean Patients........24
P038) Biochemical and Genetic Diagnosis in Congenital Disorders of Glycosylation........24
P039) Biochemical and Genetic Screening in ATP6V0A2-CDG Patients........25
P040) Analysis of Allelic Variant R347P of Exon 7 of the Gene CFTR in Patients Diagnosed With Cystic Fibrosis........25
P041) Nine Year Experience of a Provincial Newborn Screening Program........26
P042) Cystic Fibrosis: Experience of the Newborn Screening Program of Costa Rica (2009-2015)........26
P043) Galactosemia and Pregnancy Report of a Case........26
P044) Lysinuric Protein Intolerance and Liver Transplantation: A Case Description........27
P045) A Patient With OTC Deficiency That Also Has a Mutation on CPT2 Gen........27
P046) HPLC For Confirmatory Diagnosis and Biochemical Monitoring of Cuban Patients With Hyperphenylalaninemias........27
P047) Sumautolab: Automatic Analyzer of Suma® Technology for Neonatal Screening........28
P048) Confirmatory Diagnosis OF Biotinidase Deficiency in the National Centre of Medical Genetics: 2006-2013........28
P049) Propionic Acidemia and Humoral Immune Deficiency........29
P050) Hereditary Fructose Intolerance: Clinical Diagnosis in Patient With One Novel Missense Mutation in the Aldolase B Gene........29
P051) Clinical, Biochemical and Molecular Characterization of an Argentinean Patient With Niemann Pick Type B Disease........30
P052) Molecular Characterization of Phenylketonurics in Uruguay........30
P053) Incidence of Phenylketonuria in the Peruvian Social Security Institute Detected by Newborn Screening During 2012-2014........30
P054) Phenylketonuria Newborn Screening Experience In México Epidemiological Overview........31
P055) Hyperactivity: A Nearly Feature of Homocystinuria, Case Report........31
P056) Mitochondrial Diseases Series of Case Reports........32
P057) Hypercalciuric Normocalcemia and Mild Hypoparathyroidism With Pathologic Fracture in a Child: Suspected Dysfunction CASR?........32
P058) Fundación De Endocrinología Infantil (FEI): 30 Years of Experience in Newborn Screening........33
P059) Expanded Newborn Screening Experience in the Health Services of the Mexican Army........33
P060) Results of Expanded Newborn Screening in the Health Services of the Mexican Navy........34
P061) Advances to Improve Scientific Knowledge and Practice on Rare Diseases Into Higher Education in Latin America........34
P062) Nutritional Status and Body Composition of Patients With Hepatic Glycogen Storage Diseases........34
P063) Targeted Metabolomics Reveals Changes Caused by Biotin Deprivation in Rats........35
P064) Triheptanoin as a Potential Treatment for Genetic Disorders of Energy Metabolism........35
O-1.1) Oral Communications I—NBS........36
O01) Neonatal Screening Program for Central Congenital Hypothyroidism........36
O02) Etiology and Evolution in Newborns With Congenital Hypothyroidism and Mildly Elevated TSH Screening Cut-Off........36
O03) Cuban National Newborn Screening Program for Congenital Adrenal Hyperplasia From 2005-2014: A Reality........37
O04) Continuous Improvement in the Newborn Screening Program of the State of Rio De Janeiro, Brazil........37
O-1.2) Oral Communications I—EIM........38
O05) Phenylalanine Hydroxylase (PAH) Production in L. Plantarum as a Potential Orally Administered Enzyme Replacement Therapy........38
O06) Epigenetic Alterations in Niemann-Pick Type C Models: Neuronal Gene Repression Mediated by the C-ABL/HDAC2 Pathway........38
O07) Identification of Modifiable Epitopes for the ARSB Enzyme by a Computational Approach........39
O08) Production of Human Recombinant Iduronate-2-Sulfatase in Two Microbial Hosts........39
P-2) Poster Session With Authors II........39
P065) Expanded Newborn Screening Program in One Center in Santiago De Chile: 8 Year Experience and Challenges........39
P066) Review of the Immunoreactive Trypsinogen (IRT) Cutoff Value For Neonatal Screening of Cystic Fibrosis (CF)........40
P067) Qualitative Survey Tool to Evaluate Neonatal Screening Centers: Neonatal Screening Program (NSP) Zulia-Venezuela Experience........40
P068) Phenylketonuria: Analysis of Adiponectin, Biomarkers and Anthropometric Parameters........41
P069) Phenylketonuria: Analysis of Gut Microbiome Using Next-Generation Sequencing........41
P070) BH4 Loading Test for Evaluation of Neonatal Hyperphenylalaninemia........42
P071) Molecular Analysis for Galactosemia Was Implemented in the Neonatal Screening Program of the Province of Santa Fe, Argentina........42
P072) Evaluation of a New Algorithm for Cystic Fibrosis in Neonatal Screening........42
P073) Endocrinopathies Detected by Newborn Screening: Epidemiological Overview........43
P074) First Year of Metabolic Control Guidelines and its Impact on Future Metabolic Control and Cognitive Performance in Children Affected With PKU........43
P075) Energy Expenditure in Children With Maple Syrup Urine Disease (MSUD)........44
P076) Anthropometric Assessment in Children and Adolescents With Classical Phenylketonuria........44
P077) Study of Three Years of Newborn Screening for Cystic Fibrosis in the Public Health System in Southern Brazil........44
P078) Statistical Analysis for the Preanalytical Stage Sampling for Newborn Screening in Costa Rica........45
P079) Prevalence of Hemoglobin Patterns in Newborns Screened in the Public Health System in Rio Grande Do Sul State, Southern Brazil, From 2004 to 2014........45
P080) Anthropometric State Evaluation of Children Diagnosed With Maple Syrup Urine Disease (MSUD) Attended in a Reference Service in Newborn Screening in Salvador, Bahia, Brazil........46
P081) Clinical and Laboratory Characterization of Patients With Maple Syrup Urine Disease Followed in a Reference Service for Newborn Screening in Salvador, Bahia, Brazil........46
P082) Description of Nutritional Deficiencies in Children With Maple Syrup Disease (MSUD) in Dietary Treatment Attended in Reference Service of Newborn Screening in Salvador, Bahia, Brazil........47
P083) Cystic Fibrosis Birth Prevalence Diagnosed by Expanded Neonatal Screening in Yucatan, Mexico........47
P084) External Quality Assessment for the Detection of Phenylketonuria: Results of the Buenos Aires Programme........47
P085) Glucose-6-Phosphate Dehydrogenase Deficiency: Three Years Experience in Neonatal Screening Program and its Incidence in Federal District, Brazil........48
P086) Maternal Phenylketonuria: A Preventable Cause of Microcephaly........48
P087) Determination of Genotypic and Clinical Characteristics of Colombian Patients With Morquio A Syndrome........49
P088) β-Glucosidase Gene Mutations in Patients With Gaucher Disease in Western Venezuela........49
P089) Newborn Screening for Congenital Adrenal Hyperplasia (CAH): Improving the Effectiveness of the Neonatal 17OH-Progesterone (N17OHP) and Serum Confirmatory Tests........50
P090) Distribution of 17OH-Progesterone Values by Birth Weight, Gestational Age and Sex in a Population of Mexican Newborns........50
P091) Relation Between Positivity of 17 Hydroxyprogesterone Determination and Non Eutocic Childbirths........51
P092) Congenital CLN8 Neuronal Ceroid Lipofuscinosis Disease: A New Phenotype........51
P093) Standardization of TPP1 Assays for Testing Neuronal Ceroid Lipofuscinosis LCN2 Disease........51
P094) Identification of Recombinant Alleles in GBA1 Gene in Patients With Neuronopathic and Non-Neuronopathic Gaucher Disease........52
P095) Diagnosis of Lysosomal Storage Diseases in Cuba: Period 2013-2015........52
P096) Differences in Oxidative Stress Parameters Between Mucopolysaccharidoses I and VI........53
P097) Rating Leukocyte Alpha-Glucosidase Using a Natural Substrate for the Diagnostic Approach of Pompe Disease........53
P098) Biotinidase Deficiency Newborn Screening Experience in México: Epidemiological Overview........53
P099) Molecular Study of Phenylketonuria in Cuba: 2007-2013........54
P100) Evaluation of Quality Indicators of a National Newborn Screening Program........54
P101) Long-Term Safety and Efficacy of Taliglucerase Alfa in Pediatric Patients With Gaucher Disease Who Were Treatment-Naive or Previously Treated With Imiglucerase........55
P102) Comparison of Taliglucerase Alfa 30 U/kg and 60 U/kg in Treatment-Naive Pediatric Patients With Gaucher Disease........55
P103) Comparison Analysis of Gene and Exome Sequencing Technology for diagnosis of MPS Complex Disease in a Group of Patients From Southwestern Region of Colombia........55
P104) Impact on Pre- and Post-Analytical Factors After Implementation of a Newborn Screening Program........56
P105) External Quality Assurance Program for Neonatal Screening (PEEC-PN): A 15-Year Trajectory........56
P106) Evaluation of the Influence of Collecting Newborn Screening Samples Using Two Different Filter Papers During the Same Time Period........57
P107) Wolman Disease … Not so Wolman........57
P108) Liver Transplant in Niemann Pick B (NPB): Report of 3 Cases........57
P109) Enzymatic Diagnosis of Mucopolysaccharidosis IVA in Chile........58
P110) The Use of Tandem Mass Spectrometry in Newborn Screening........58
P111) Newborn Screening of Special Cases—Preterm Newborns, Low Birth Weight Infants and Severely Ill Infants: Establishing a National Protocol........59
P112) Stability of Creatine Kinase in Dried Blood Spots........59
P113) Anesthesia for MRI and Diagnostic Tests in Mucopolysaccharidosis Patients........60
P114) Description of 11 Cases of Neuronalceroid Lipofuscinosis........60
P115) Identification of the Genetic Mutations of a Group of Chilean Patients With Mucopolysaccharidosis Type II Diagnostics........60
P116) Prevalence of Sickle Cell Trait and Sickle Cell Anemia From the Neonatal Screening Program in the Pará State, Brazil in 2014........61
P117) Quality Guarantee of Neonatal Screening Assays........61
P118) Perception That Medical Students Have About Neonatal Screening Tests for Inborn Metabolic Diseases in Four Hospitals........61
P119) Molecular Characterization of Patients With Mucopolysaccharidosis IVA in south Western Colombia........62
P120) Neuroclinical and Neuroradiological Aspects of Mucopolysaccharidosis Type II Patients Following at Centro De Referencia Em Erros Inatos do Metabolismo (CREIM) of Universidade Federal De Sao Paulo (UNIFESP)........62
P121) A New Mutation in the Intron of the IDS Gene in an Adult Patient with Mucopolysaccharidosis Type II........63
P122) The Role of the Laboratory in the Early Diagnosis of Cystic Fibrosis........63
P123) Cystic Fibrosis: Diagnosis on Newborn Screening in Espirito Santo State, Brazil........63
P124) Neonatal Screening for Hemoglobinopathies in Mexico: An Analysis of 277,760 Newborns........64
P125) Response to Compassionate Use of Triheptanoin in Infants With Cardiomyopathy Due To Long Chain Fatty Acid Oxidation Defects (LC-FAODS)........64
P126) When Two Conditions With Similar Features Meet: A Case of Erdheim Chester Disease in a Patient With a Common Genetic Disorder........65
P127) Methylmalonic Acidemia........65
P128) Galactosemia Due to Galactokinase Deficiency: Report of a New Mutation in a Mexican Patient........66
P129) Hyperornithinemia: Diagnostics and Nutritional Food Handling on the First Case Reported in Cuba........66
P130) Can the Same Platform of Tandem Mass Spectrometry on Newborn Screening of Amino Acid and acylcarnitine be Used for Investigation of Symptomatic Patients? A 4-Year Experience........66
P131) Three Cases of Niemann Pick Type C: Clinical, Biochemical and Molecular Aspects........67
P132) Renal Failure in Propionic Acidemia, Not Such an Infrequent Complication: Report of 2 Cases........67
P133) Diagnosis, Management and Follow Up of Patients With Maple Syrup Urine Disease: Report of a Case........68
P134) Atypical Nonketotic Hyperglycinemia by Dysfunction of T Protein of Glycine Cleavage System........68
P135) Pregnancy in a Patient With Mucopolysaccharidosis Type I (MPS I) Treated With Enzyme Replacement Therapy—Case Report........68
P136) Hyperphenylalaninemia and BH4 Deficiency: Two Case Reports........69
P137) An Unusual Sight of the Epilepsy: ATP1A3 Mutations........69
P138) Experience in Management of a Patient With Ethylmalonic Encephalopathy........70
P139) Nutritional Treatment for Maple Syrup Urine Disease (MSUD): A Case Report........70
P140) Lysinuric Protein Intolerance (LPI), Report of 2 New Cases........70
P141) A 3-Month-Old Boy Presenting With Fulminant Hepatic Failure and Mitochondrial Depletion Syndrome With a Homozygous Missense Variant in the POLG2 Gene........71
P142) Pelizaeus Merzbacher: A Rapidly Fatal Leukodystrophy........72
P143) Optic Nerve Enlargement in a Case of Krabbe Disease........72
P144) Magnetic Resonance Patterns in Children With Adrenoleukodystrophy........73
P145) Methylmalonic Acid (MMA), One Metabolite-Several Diseases........73
P146) Parenting Styles and Coping Strategies in Congenital Hypothyroid Children........73
P147) Investigation of Inborn Errors of Metabolism (IEM) in Cartagena de Indias, Colombia: Experience of 13 Years........74
P148) Membrane Protein Carbonylation Patterns of Human Erythrocytes in G6PD-Deficient And HBS Patients........74
P149) Real-World Experience in the Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 (CLN2): Report From an International Collaboration of Experts........75
P150) Gastrostomy Improves Chronic–Acute Malnutrition in Patients With Inborn Errors of Metabolism........75
P151) Experiences for More Than 20 Years in the Nutritional Management of Patients Diagnosed With Galactosemia........76
P152) Systematic Review of Liver Cancer Differential Expression Analysis Using Oncomine: Genes Causing Hepatic Glycogenosis and its Implication in Hepatocarcinogenesis........76
P153) Homocystinuric Patients With Cystathionine Beta-Synthase (CBS) Deficiency. Study of Genotype-Phenotype Correlation: 15 Years’ Experience in Cemeco, Argentina........76
P154) Undescribed Altered Biotinidase Activity in Metabolic Pathologies Unrelated to defects in the Cycle of Biotin........77
P155) Cerebellar Hypometabolism and Cognitive Deficits in Erdheim Chester Disease: Just Accumulation of Histiocytes or Secondary Metabolic/Endocrine Deficits?........77
P156) Is Alfa 1 Antitrypsin Heterozygosity A Phenotype Modifier for Glycogen Storage Disorders?........78
P157) Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency: Acylcarnitine (AC) Profile in Two Different Situations: Newborn Screening Versus Metabolic Decompensation........78
P158) Nutritional Status by Anthropometry in Children Diagnosed With Inborn Errors of Metabolism........78
P159) Groups of Health Education in Ceaps: An Accession Strategy to Youth Treatment With Phenylketonuria........79
P160) Epilepsy Associated to Inborn Errors of Metabolism, Study, and Evolution of 68 Patients........79
P161) Metal Inborn Errors of Metabolism (MIEM): Clinical, Laboratory, and Radiological Features........80
P162) Glycogen Storage Disease Type III (GSDIII): Clinical Characterization of a Group of Chilean Patients........80
P163) Child Mortality in Brazil: An Epidemiological Study on Inborn Metabolic Disorders of Intermediary Metabolism........81
P-3) Poster Session With Authors III........81
P164) Incidence of Cystic Fibrosis: A Decreasing Trend Throughout the Years........81
P165) Monitoring of Congenital Hypothyroidism in Tucuman, Argentina’s Neonatal Screening Program........81
P166) 22 Years of Experience in Newborn Screening for Congenital Hypothyroidism........82
P167) Relationship Between Anthropometric Development and Metabolic Control of Children With Diagnosis of Maple Syrup Urine Disease (MSUD) Monitored in a Reference Service in Newborn Screening (RSNS)........82
P168) Outcome in Patients With Phenylketonuria (PKU): What Should be Improved?........83
P169) The Role of the Psychologist as a facilitator of Mourning From Preparation Helping Improve Adherence to Treatment of Phenylketonuria........83
P170) The Feasibility of Using an MSMS Based Method With Perkin Elmer Lysosomal Storage Disease (LSD) Reagents to Implement a Newborn Screening Test for Six LSD........84
P171) Lysosomal Acid Lipase in Dried Blood Spots (DBS) in Argentinean Population........84
P172) Evaluation of Long-Term Stability of Lysosomal Enzyme Activities in Dried Blood Spots in Different Storage Conditions........85
P173) Panorama of the Last Year of Operation of MSUD Network........85
P174) Chitotriosidase: A Biomarker for the Diagnostic Approach of Lysosomal Storage Disorders........86
P175) Spontaneous Subdural Hematoma in Mucopolysaccharidosis: Report of Five Cases and Literature Review........86
P176) Neurocognition in Early Detected and Treated Congenital Hypothyroid Children........86
P177) Analysis of Foxe1 Gene in a Sample of Mexican Patients With Primary Congenital Hypothyroidism Due to Thyroid Dysgenesis........87
P178) Variability of Thyroid Stimulating Hormone (TSH) Values in Newborn Dry Blood Samples According to Birth Weight and Maternal Body Mass Index in a Mexican Population........87
P179) Mucopolysaccharidosis and Their Enzyme-Replacement Therapies. Long-Term Considerations........88
P180) Plasma Oxysterol Analysis for Niemann-Pick Type C Disease Diagnosis and Pre-Analytical Conditions........88
P181) Investigation of Lysosomal Acid Lipase Deficiency: Experience of a Reference Center........89
P182) Epidemiological Behavior of the Screened Diseases in Costa Rica by the National Newborn Screening Program (NSP) 1990-2014........89
P183) First Year After Congenital Adrenal Hyperplasia Neonatal Screening in a Public Health Program in Southern Brazil........89
P184) Extended Neonatal Screening In Indigenous Population of Mexico........90
P185) MPS Brazil Network: Over a Decade Improving Diagnosis of MPS........90
P186) Analysis of Signaling Pathways Associated With Liver Damage Using In-Vitro and In-Vivo Models of Niemann-Pick Disease........91
P187) Vitamin B12 Deficit in Infant of a Vegetarian Mother: Application of Tandem Mass Spectrometry and Gas Chromatography........91
P188) Implementation of the Newborn Screening Program at the Nicaraguan Social Security Institute: First Year Results........91
P189) Newborn Screening for Cystic Fibrosis in Nuevo León, México........92
P190) High Birth Prevalence of Congenital Hypothyroidism and Geographical Variations of the Disease in the Mexican State of Tabasco........92
P191) Biochemical Findings of Beta-Ketothiolase T2-Deficiency in a Patient With Severe Neurological Involvement........93
P192) Mucopolysaccharidosis Type VI, a Family Event Presentation........93
P193) Inborn Errors of Metabolism and Pregnancy........93
P194) Mitochondrial DNA Depletion Syndrome Due to Thymidine Kinase 2 Mutation in Two Argentinian Patients........94
P195) Retrospective Diagnosis of Lysosomal Acid Lipase Deficiency........94
P196) Hepatic Failure Associated With Type 1 Citrullinemia........95
P197) The Use of Percentiles for Determination of Cut-Off Values in Newborn Screening Using Totally Automated System and Multiplex Assays........95
P198) A Totally Automated System for Newborn Screening of PKU, GAL, and MSUD Using 384 Well Microplates........96
P199) Congenital Hypothyroidism in a Provincial Newborn Screening Program........96
P200) Correlation Genotype/Phenotype in Hunter Syndrome in Two Unrelated Boys........96
P201) Evidences of Lipid Metabolism Regulation by Sulfur Amino Acids in Classical Homocystinuria........97
P202) Smith-Lemli-Opitz. Clinical Spectrum........97
P203) Neonatal Screening Program Experience in the Public Health Laboratory Department of Magdalena, Colombia........98
P204) Congenital Hypothyroidism Neonatal Screening Program: Ten-Year Experience in Guatemala........98
P205) Fifteen Years of Continuous Monitoring of the Turnaround Times in Newborn Screening for Congenital Hypothyroidism........98
P206) Biotinidase Deficiency in Brazil: A Clinical, Biochemical and Genetic Study........99
P207) Advances in IEM Diagnosis During the Last 7 Years: Overview From a Biochemical Diagnosis Reference Center........99
P208) Congenital Metabolism Diseases of Neurotransmitters in Pediatric Neurology: Clinical Description and Neurological Tracing of a Group of Patients........100
P209) Lower TSH Cutoff Level for Congenital Hypothyroidism Neonatal Screening: Pilot Experience in the Buenos Aires City Neonatal Screening Program (PPN)........100
P210) Incidence of Congenital Hypothyroidism Remains Constant in Chile........101
P211) Twelve Years of Neonatal Screening Program for Congenital Hypothyroidism........101
P212) Extrapyramidal Symptoms in Patients With Inborn Errors of Metabolism........102
P213) White Matter Disorders in a Serie of 150 Patients With Metabolic Disease........102
P214) Mitochondrial DNA Disease: Clinical Spectrum From the Genotype to the Phenotype........102
P215) 15 Years of Experience of Neonatal Screening Program in Mendoza-Argentina........103
P216) Implementation of Screening Program to Detect Endocrine and Metabolic Diseases in the Province of Salta, Argentina........103
P217) Strategy for the Implementation of a Neonatal Screening Program in a Municipality of Bolivia With S.U.M.A. Technology........104
P218) Diet Therapy and Perception of Parent / Caregiver of Individuals With Phenylketonuria, With and Without Autism, Accompanied the Reference Service in Newborn Screening........104
P219) 10 Years of Neonatal Screening Experience for Congenital Hypothyroidism Using the Suma Technology in Arauca, Colombia........104
P220) Newborn Screening for Pompe Disease: Trying to Reach an Earlier Diagnosis........105
O-2.1) Oral Communications II—NBS........105
O09) Obtention of Low Phenylalanine Whole Blood for Preparation of Reference Materials and Calibrators for Newborn Screening Using Phenylalanine Ammonia Lyase........105
O10) Initial Experience of Newborn Screening for Medium Chain Acyl Co-A Dehydrogenase Deficiency (MCADD)........106
O11) Benefits of Second-Tier Confirmation of Newborn Metabolic Screening Using Targeted Next Generation Sequencing in Latin America........106
O12) Molecular Characterization of Galt Gene in Argentinean Patients With Decreased Galactose-1-Phosphate Uridyltransferase Activity........107
O13) 25 Years of Experience on Newborn Screening for Phenylketonuria in Costa Rica: Identification of the Most Common Mutations in the Phenylalanine Hydroxylase (PAH) Gene........107
O14) Development of First and Second Tier Newborn Screening Assays for Spinal Muscular Atrophy........107
O-2.2) Oral Communications II—EIM........108
O15) Classical Homocystinuria: A Comprehensive Study in Brazil........108
O16) Ethylmalonic Encephalopathy (EE). Clinical, Biochemical and Imaging Data in Six Patients and the Importance of Urine Thiosulfates in the Diagnosis........109
O17) In Vitro Uptake and Kinetic Characterization of Recombinant Human Beta-Hexosaminidases........109
O18) Intracranial Hypertension in Mucopolysaccharidosis Patients: What Should we Take Into Account?........110
O19) Neurocognitive Functioning in Patients Tyrosinemia Type 1 Under NTBC and Nutritional Management........110
O20) Urea Cycle Disorders: Previous and Novel Genetic Findings in Argentine Patients........110
INDEX BY ABSTRACTS ........111
INDEX BY AUTHORS ........118
(P-1) Poster Session With Authors I
P001 - Multiplex Analysis Using a Totally Automated System for Newborn Screening of Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, and Cystic Fibrosis in the Northeast of Brazil
Sampaio Filho (jr), C.(1); Frias, F.(1); Veturiano, R.(1); Assunção Do Amor Divino, S.(2); Andrade Sousa, M.(2); Conceição Da Purificação, A(2)
(1): INTERCIENTIFICA, S.J.Campos, Brasil
(2): APAE-SALVADOR, Salvador, Brasil
P002 - Newborn Screening for Biotinidase Deficiency Using a Totally Automated System and Enzymatic Analysis With Results Expressed in nmol/min/mL
Sampaio Filho (jr), C.(1); Frias, F.(1); Veturiano, R.(1); Silva, V.(1); Gallo, B.(1); Bernardes, F.(1); Boalento, J.(1); Massi, A.(1); Lira, J.(1)
(1): INTERCIENTIFICA, S.J.Campos, Brasil
P003- Newborn Screening for Maple Syrup Urine Disease (MSUD) Using a Totally Automated System
Sampaio Filho (jr), C.(1); Frias, F.(1); Veturiano, R.(1); Silva, V.(1); Bernardes, F.(1); Boalento, J.(1); Massi, A.(1); Lira, J.(1)
(1): INTERCIENTIFICA, S.J.Campos, Brasil
P004 - Importance of Individualized Nutritional Calculation in Nephropathic Cystinosis: Comparison of Two Cases
Guillén López, S.(1); Belmont-martínez, L.(2); Vela-amieva, M.(2); Juárez-cruz, M.(3)
(1): Instituto Nacional de Pediatría, D.F., México
(2): Instituto Nacional de Pediatría, D.F, México
(3): Instituto Politécnico Nacional, D.F, México
P005 - Biochemical Diagnosis of Non-Ketotic Hyperglycinemia in Cuba
Contreras Roura, J.(1); Camayd Viera, I.(1); Nogueras Rodríguez, L.(1); Padrón Díaz, A.(1); Martínez Rey, L.(1); Teixidor Llopiz, L.(1); González Reyes, E.(2)
(1): Centro Nacional de Genética Médica, La Habana, Cuba
(2): Centro de Inmunoensayo, La Habana, Cuba
P006 - Mitochondrial Myopathy: TK2 Gene Depletion Syndrome
Chacin Hernandez, J.(1); Costagliola Martorona, A.(2); Miranda Contreras, L.(2); Torres Chirinos, Y.(2); Ocando Pino, L.(3); Mahfoud, A.(4)
(1): Universidad del Zulia, Maracaibo, Venezuela
(2): Universidad del Zulia
(3): Fundación Hospital de Especialidades Pediátricas
(4): Instituto de Estudios Avanzados
P007 - Workflow Improvements Obtained With Automation of Traditional Newborn Screening Assays on the Perkinelmer GSP® High-Throughput System
Furu, P.(1); Merio, L.(1); Kerokoski, P.(1); Karunen, J.(1); Seppala, J.(1)
(1): PerkinElmer Diagnostics, Turku, Finland
P008 - Creatine Kinase Muscle Isozyme Immunoassay for the Newborn Screening of Duchenne Muscular Dystrophy
Furu, P.(1); Korpimaki, T.(1); Makinen, P.(1); Merio, L.(1); Airenne, S.(1); Polari, H.(1); Hakala, H.(1)
(1): PerkinElmer Diagnostics, Turku, Finland
P009 - Validation of Prescan Function of Autodelfia Software
Borrajo, G.(1); Gómez, F.(1); Di Carlo, C.(1)
(1): Detección de Errores Congénitos. Fundación Bioquímica Argentina, La Plata, Argentina
P010 - Experience With Sapropterin Treatment in PKU Patients
Fraga, C.(1); Valle, G.(1); Enacan, R.(1); Mendez, V.(1); Prieto, L.(1); Chiesa, A.(1)
(1): Fundacion de Endocrinologia Infantil, CABA, Argentina
P011 - BONE Mineral Density in Children With Maple Syrup Urine Disease (MSUD)
Campo Perez, K.(1); Castro, G.(1); Hamilton, V.(1); Bravo, P.(1); Arias, C.(1); Cabello, J.(1); Cornejo, V.(1)
(1): INTA, SANTIAGO, CHILE
P012 - Genotype Analysis OF Phenylketonuria in Chile
Hamilton, V.(1); Santamaria, L.(1); Cornejo, V.(1)
(1): INTA, Universidad de Chile, santiago, Chile
P013 - Evaluation of DNA Extraction Method and 11 Most-Common Mutations in the CYP21A2 Gene From Neonatal Dried Blood Spots Samples as a Confirmatory Method in Neonatal Screening (NS)
Marino, S.(1); Dratler, G.(1); Ramirez, P.(1); Perez Garrido, N.(1); Galeano, J.(1); Juanes, M.(1); Touzon, S.(1); Glikman, P.(2); Junco, M.(2); Maccalini, G.(3); Aranda, C.(3); Pasteris, E.(4); Campi, V.(5); Vaiani, E.(1); Marino, R.(1); Belgorosky, A.(1)
(1): Hospital de Pediatria SAMIC Dr JP Garrahan, Buenos Aires, Argentina
(2): Hospital Ramos Mejia, Buenos Aires, Argentina
(3): Hospital Durand, Buenos Aires, Argentina
(4): Hospital Materno Infantil, Salta, Argentina
(5): Maternidad Provincial 25 de Mayo, Catamarca, Argentina
P014 - Evaluation Of Neolisa® MSUD Kit in Maple Syrup Urine Disease Child Monitoring in a Reference Service for Newborn Screening
Santos Calmon, L.(1); Da Anunciação Do Espírito Santo, D.(1); Efigenia De Queiroz Leite, M.(1); Amaral Boa Sorte, N.(2); Kraychete Costa, B.(2); Amorim, T.(2)
(1): APAE/UFBA, Salvador, BRASIL
(2): APAE/UNEB, Salvador, BRASIL
P015 - Congenital Hypothyroidism. Progression of the Neonatal Screening Program in the Department of La Paz, Bolivia
Jove, A.(1); Salvatierra, I.(1); Siacar, S.(2)
(1): Hospital Arco Iris, La Paz, Bolivia
(2): Hospital Materno Infantil, La Paz, Bolivia
P016 - Distribution of the C.60+5G>T Danish Pathogenic Variant of PAH Gene Among Latin American PKU Patients and Phenotype Description of Resulting Homozygous State
Fernández-lainez, C.(1); González Del Ángel, A.(2); Alcántara-ortigoza, M.(2); Ibarra-gonzález, I.(3); Vela-amieva, M.(2)
(1): Instituto Nacional de Pediatría, Mexico DF, Mexico
(2): Instituto Nacional de Pediatría, Mexico DF
(3): Instituto de Investigaciones Biomédicas, Mexico DF,
P017 - Evaluation of Homocysteine Levels in Cuban Patients With Homocystinuria and Methylmalonic Aciduria
Concepción Alvarez, A.(1); Camayd Viera, I.(1); Nuevas Paz, L.(1); Martínez Rey, L.(1); González Reyes, E.(2)
(1): Centro Nacional de Genética Médica, La Habana, Cuba
(2): Centro de Inmunoensayos, La Habana, Cuba
P018 - Organic Acidurias in Chile: Evaluation After a Year of Implementation of Urinary Organic Acids Test by Gas Chromatography-Mass Spectrometry (GC-MS)
Fuenzalida, K.(1); Betta, K.(1); Arias, C.(1); Sanchez, M.(1); Valiente, A.(1); Cornejo, V.(1); Cabello, J.(1)
(1): Instituto de Nutrición y Tecnología de los Alimentos. Dr. Fernando Monckeberg, Santiago, Chile
P019 - Transient Congenital Hypothyroidism due to Biallelic Defects in DUOX2 Gene
Enacan, R.(1); Masnata, M.(1); Papendieck, P.(1); Belforte, F.(2); Targovnik, H.(2); Gruñeiro-papendieck, L.(1); Rivolta, C.(2); Chiesa, A.(1)
(1): CEDIE-CONICET-FEI-División de Endocrinología, Hospital de Niños R. Gutiérrez, CABA, Argentina
(2): Catedra de Biologia Molecular. Facultad de Farmacia y Bioquímica UBA, CABA, Argentina
P020 - Cobalamine C Deficiency. A Case Detected by Newborn Screening
Lemes, A.(1); Zabala, C.(1); Machado, M.(1); González, F.(1); Cabrera, A.(1); Queijo, C.(1)
(1): Instituto de Seguridad Social-BPS, Montevideo, Uruguay
P021 - Neonatal Screening of Persistent Hyperphenylalaninemia: Strategies and Cut-Off Values
Guercio, A.(1); Villarías, N.(1); Lobato, V.(1); Castro, B.(1); Bassino, S.(1); Valle, S.(1)
(1): Programa Pesquisa Neonatal-CEPEII. Hospital Pediátrico Dr. Humberto Notti, Mendoza, Argentina
P022 - Cognitive Assessment and Stimulation in Patients With Glutaric Acidemia Type 1, With Severe Neurological Impairment, by Using Technological Platform Games
García Valdés, M.(1); Arias, C.(1); De La Parra, A.(1); Solares, C.(2); Olguín, P.(2); Bunster, J.(2); Grez, O.(2)
(1): LabGEM del INTA, Universidad de Chile, Santiago, Chile (2): Cedeti P. Universidad Católica de Chile, Santiago, Chile
P023 - Glutaric Aciduria Type I (GA1), Clinical Characterization and Genetic Study of 11 Chilean Children
Troncoso, M.(1); Santander, P.(1); Ruiz, I.(1); Yáñez, C.(1); Troncoso, L.(1); Barrios, A.(1); Tello, J.(1); Guzmán, G.(1)
(1): Hospital Clínico San Borja Arriarán. Servicio Neuropsiquiatria Infantil, Santiago, Chile
P024 - Frequency Analysis of the N370S and L444P Mutations in Gaucher Disease Patients From Pará-Northern Brazil
Franco, F.(1); Pereira, L.(1); Amaral, C.(1); Trindade, S.(2); Santana Da Silva, L.(1)
(1): Universidade Federal do Pará, Belém, Brazil
(2): Fundação Centro de Hematologia e Hemoterapia do Pará, Belém, Brazil
P025 - Objectives and Quality Requirements in Neonatal Screening Programs. A Relevant Tool in Public Health
Eguileor, I.(1); Dulín, E.(2); Espada, M.(2); Zubizarreta, R.(2)
(1): AECNE-ASOCIACION ESPAÑOLA DE CRIBADO NEONATAL, Madrid, España
(2): AECNE-ASOCIACION ESPAÑOLA DE CRIBADO NEONATAL, Madrid,
P026 - Neonatal Screening Program (NSP) in Zulia—Venezuela: Evaluation of Twelve Years of Experience
Costagliola Martorona, A.(1); Chacin Hernandez, J.(2); Ocando Pino, L.(3); Mejìa Villan, I.(4); Torres Quevedo, E.(3); Torres Chirinos, Y.(3); Picado Gutierrez, J.(3)
(1): Fundacion Hospital De Especialidades Pediatricas, Maracaibo, Venezuela
(2): La Universidad del Zulia; Instituto de Investigaciones Genèticas, Maracaibo
(3): Fundacion Hospital de Especialidades Pediatricas; Laboratorio de Salud Pùblica, Maracaibo
(4): Fundaciòn Hospital de Especialidades Pediatricas, Maracaibo,
P027 - Newborn Screening Experience for Galactosemia in México
Mendiola Ramírez, K.(1); Gonzalez Guerrero, J.(1); Delgado Gonzalez, E.(1); Burciaga Torres, M.(1); Ferrer Arreola, L.(1)
(1): Instituto Mexicano del Seguro Social, Coordinación de Atención Integral a la Salud en el Primer Nivel, México D.F., Mexico
P028 - Neuronal Ceroid Lipofuscinosis-2 (CLN2) Disease, a Type of Batten Disease Caused by TPP1 Enzyme Deficiency: Current Knowledge of the Natural History From International Experts
Guelbert, N.(1); L Cohen-pfeffer, J.(2); Crystal, R.(3); De Los Reyes, E.(4); Eto, Y.(5); Héron, B.(6); Mikhailova, S.(7); Miller, N.(8); Mink, J.(9); Socorro Perez-poyato, M.(10); Simonati, A.(11); Sims, K.(12); Williams, R.(13); Schulz, A.(14)
(1): Hospital de Niños de Cordoba, Cordoba, Argentina, CORDOBA, Argentina
(2): BioMarin Pharmaceutical Inc., Novato, CA, USA, Novato, USA
(3): Department of Genetic Medicine, Weill Cornell Medical College, New York, NY, USA, New York, USA
(4): Department of Pediatric Neurology, Nationwide Children’s Hospital, Columbus, OH, USA, COLUMBUS, USA
(5): Advanced Clinical Research Center, Southern Tohoku Brain Research Center, Kawasaki, Japan, Kawasaki, Japan
(6): Service de Neuropédiatrie, CHU Paris Est—Hôpital d’Enfants Armand-Trousseau, Paris, France, PARIS, FRANCE
(7): Department of Medical Genetics, Russian Pediatric Regional Hospital, Moscow, Russia, MOSCOW, RUSSIA
(8): Biomarin, Novato, USA
(9): Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA, ROCHESTER, USA
(10): Unit of Pediatric Neurology, Hospital Universitario Marqués de Valdecilla, Santander, Cantabria, Spa, CANTABRIA, SPAIN
(11): Department of Neurological and Movement Sciences-Neurology, University, VERONA, ITALY
(12): Department of Neurology, Massachusetts General Hospital, Boston, MA, USA, BOSTON, USA
(13): Children’s Neurosciences, Guy’s and St Thomas’ NHS Foundation Trust, London, UK, LONDON, USA
(14): 13Department of Paediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany, HAMBURG, GERMANY
P029 - A Study on the Effects of Interrupting Enzyme Replacement Therapy on a Lysosomal Storage Disorder
Schneider, A.(1); Baldo, G.(1); Pasqualim, G.(2); Tavares, A.(3); Giugliani, R.(3); Matte, U.(3)
(1): Hospital de Clínicas de Porto Alegre/ Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
(2): Hospital de Clínicas de Porto Alegre, Porto Aleg, Brazil
(3): Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil
P030 - Nutritional Status and Carnitine Levels in Patients With Nephropatic Cystinosis
Guillén López, S.(1); Belmont-martínez, L.(2); Ibarra-gonzález, I.(3); Juárez-cruz, M.(4); Vela-amieva, M.(2)
(1): Instituto Nacional de Pediatría, D.F., México
(2): Instituto Nacional de Pediatría, D.F, México
(3): Instituto de Invetigaciones Biomédicas, D.F, México (4): Instituto Politécnico Nacional, D.F, México
P031 - Recommendations for Enzyme Replacement Therapy in Classical Phenotype of Fabry Disease in Latin America
Politei, J.(1)
(1): Fundación para el Estudio de las Enfermedades Neurometabólicas (FESEN), quilmes, ARGENTINA
Authors: JUAN POLITEI, on behalf of Latinamerican study group for the recommendations of enzyme replacement therapy in Fabry Disease
P032 - Regulation of the Antioxidant Enzymes Catalase and Glutathione Peroxidase 1 by Kinase C-ABL in Neuronal Models of Niemann-Pick C Disease
Rojas, C.(1); Marín, T.(1); Castro, J.(1); Contreras, P.(1); Alvarez, A.(1); Zanlungo, S.(1)
(1): Pontificia Universidad Católica de Chile, Santiago, Chile
P033 - Sphingomyelin Metabolism and Fibrosis Development in Livers of Niemann–Pick Type B Disease Patients and the Mouse Model
Acuña, M.(1); Benítez, C.(1); Arrese, M.(1); Miquel, J.(1); Mabe, P.(2); Schuchman, E.(3); Zanlungo, S.(1)
(1): Pontificia Universidad Católica de Chile, Santiago, Chile
(2): Hospital Exequiel González Cortés, Santiago, Chile
(3): Icahn School of Medicine at Mount Sinai, New York, Estados Unidos
P034 - Development of a New 17OH Progesterone Neonatal Umelisa Using Monoclonal Antibodies on the Solid Phase
González Reyes, E.(1); Morejón García, G.(1); Castells Martínez, E.(1); García De La Rosa, I.(1); Rubio Torres, A.(1); Frómeta Suárez, A.(1); Pérez Moras, P.(1); Del Río Fabre, L.(1); Tejeda Gómez, Y.(1); Segura González, M.(1); Almenares Guasch, P.(1); Quintana Guerra, J.(1); Rosabal Polonshkov, A.(1)
(1): Centro de Inmunoensayo, La Habana, Cuba
P035 - Standardization of a Molecular Method for Mutations Detection in the CFTR Gene in Patients With Cystic Fibrosis Suspicion in Southern Brazil
Castro, S.(1); Rosseti, L.(2); Dornelles, C.(2); Grandi, T.(2); Filippon, L.(3); Rispoli, T.(4)
(1): Serviço Referência Triagem Neonatal RS/Universidade Federal do Rio Grande do Sul, Porto Alegre, Brasil
(2): Centro de Desenvolvimento Científico e Tecnológico (CDCT)—Fundação Estadual de Produção e Pesquisa, Porto Alegre, Brasil
(3): Serviço de Referência em Triagem Neonatal RS (SRTN)/PMPA, Porto Alegre, Brasil (4): Centro de Desenvolvimento Científico e Tecnológico (CDCT)—FEPPS/UFRGS, Porto Alegre, Brasil
P036 - Validation of the GSP 2021® for the Performance of Newborn Screening Tests in Southern Brazil
Castro, S.(1); Macedo, J.(2); Canto, A.(2); Filippon, L.(2)
(1): Serviço Referência Triagem Neonatal RS/Universidade Federal do Rio Grande do Sul, Porto Alegre, Brasil
(2): Serviço Referência Triagem Neonatal RS/HMIPV/PMPA, Porto Alegre, Brasil
P037 - Peroxisomal Disorders With Neonatal Presentation: Clinical Features, Imaging Findings and Lab Tests in a Series of Chilean Patients
Troncoso, M.(1); Barrios, A.(1); Balut, F.(1); Ruiz, I.(1); Hidalgo, M.(1); Muñoz, D.(1); Parra, P.(1); Sáez, C.(1); Nilo, K.(1); Carrera, J.(1); Guerra, P.(1)
(1): Hospital Clinico San Borja Arriaran, Servicio Neurología Infantil, Santiago, Chile
P038 - Biochemical and Genetic Diagnosis in Congenital Disorders of Glycosylation
Asteggiano, C.(1); Papazoglu, G.(2); Suldrup, N.(3); Ng, B.(4); Dodelson De Kremer, R.(5); Freeze, H.(6)
(1): CONICET/CEMECO/UNC/UCC Hospital de Niños Sma Trinidad, Córdoba, Argentina
(2): CONICET/Centro de Estudio de las Metabolopatías (CEMECO) UNC/Hospital de Niños Sma Trinidad, Córdoba, Argentina
(3): Dpto. Metabolopatías, IACA Laboratorios, Bahía Blanca, Argentina
(4): Human Genetics Program, Sanford-Burnham Medical Research Center, San Diego (CA), United States (USA)
(5): Centro de Estudio de las Metabolopatías (CEMECO) UNC/Hospital de Niños Sma Trinidad, Córdoba, Argentina
(6): Human Genetics Program, Sanford-Burnham Medical Research Center, San Diego (CA), United State (USA)
P039 - Biochemical and Genetic Screening in ATP6V0A2-CDG Patients
Lopez Valdez, J.(1); Bahena-bahena, D.(2); Raymond, K.(3); Salinas-marín, R.(2); Ortega-garcía, A.(2); Ng, B.(3); Freeze, H.(4); Ruiz-garcía, M.(5); González-palacios, J.(6); Patiño-félix, F.(6); Arenas-velazquez, E.(6); Martínez-duncker, I.(2)
(1): CENTENARIO HOSPITAL MIGUEL HIDALGO, AGUASCALIENTES, MEXICO
(2): HUMAN GLYCOBIOLOGY LABORATORY, SCIENCE FACULTY, MORELOS STATE AUTONOMOUS UNIVERSITY, MORELOS
(3): MAYO CLINIC, ROCHESTER, USA
(4): SANFORD BURNHAM MEDICAL RESEARCH INSTITUTE, LA JOLLA, USA,
(5): INSTITUTO NACIONAL DE PEDIATRÍA, DISTRITO FEDERAL
(6): CENTENARIO HOSPITAL MIGUEL HIDALGO, AGUASCALIENTES,
P040 - Analysis of Allelic Variant R347P of Exon 7 of the Gene CFTR in Patients Diagnosed With Cystic Fibrosis
Albrekt, A.(1); Trigo, C.(2); Tiscornia, M.(2); Guastavino, M.(3); Malvasi, G.(3)
(1): Programa Provincial de Pesquisa Neonatal Misiones, Posadas, Argentina
(2): Instituto de Biotecnología Misiones “Dra Maria Ebe Reca” Universidad Nacional de Misiones, Posadas, Argentina
(3): Facultad de Ciencias Exactas, Químicas y Naturales, Universidad Nacional de Misiones, Posadas, Argentina
P041 - Nine Year Experience of a Provincial Newborn Screening Program
Albrekt, A.(1); Czubarko, L.(1); Klein, P.(1)
(1): Programa Provincial de Pesquisa Neonatal Misiones, Posadas, Argentina
P042 - Cystic Fibrosis: Experience of the Newborn Screening Program of Costa Rica (2009-2015)
Rodríguez Araya, A.(1); Obando Rodríguez, S.(1); Chaves Guzmán, I.(1); Alvarado Romero, D.(2); Jiménez Hernández, M.(2); Saborio Rocafort, M.(2)
(1): Asociación Costarricense para el Tamizaje (ASTA), San José, Costa Rica
(2): Programa Nacional de Tamizaje Neonatal (PNT), San José, Costa Rica
P043 - Galactosemia and Pregnancy Report of a Case
Carrillo Estrada, U.(1); Zayas Torriente, G.(2); Torriente Valle, J.(3); Henriquez Daudinot, L.(1); Abreu Soto, D.(3)
(1): Hospital Docente Marfan-Borrás, La Habana, Cuba
(2): Instituto nacional de Higiene, epidemiologia y microbiología, La habana, Cuba
(3): Instituto Nacional de Higiene, Epidemiología, La habana, Cuba
P044 - Lysinuric Protein Intolerance and Liver Transplantation: A Case Description
Bravo, P.(1); Carolina, A.(1); Pilar, P.(1); Barbara, O.(2); Carolina, A.(2); Juan Francisco, C.(1)
(1): LabGEM INTA, Santiago, Chile
(2): Hospital Van Buren, Valparaiso, Chile
P045 - A Patient With OTC Deficiency That Also Has a Mutation on CPT2 Gen
Piñeros-fernandez, M.(1); Rivera-nieto, C.(1); Lozano, M.(1); Aguilera, S.(1); Leal, M.(1); Londoño, C.(1)
(1): Fundacion Cardioinfantil, Bogota, Colombia
P046 - HPLC For Confirmatory Diagnosis and Biochemical Monitoring of Cuban Patients With Hyperphenylalaninemias
Contreras Roura, J.(1); Alonso Jiménez, E.(1); Fuentes Smith, L.(1); González Reyes, E.(2)
(1): Centro Nacional de Genética Médica, La Habana, Cuba
(2): Centro de Inmunoensayos, La Habana, Cuba
P047 - Sumautolab: Automatic Analyzer of Suma® Technology for Neonatal Screening
Frías Figueroa, G.(1); Toledano Hernández, A.(1); Iglesias Benitez, A.(1); Arce Quintana, J.(1); Pico García, J.(1); González Aguilera, D.(1); García Álvarez, M.(1); Frómeta Suárez, A.(1); González Reyes, E.(1); Carlos Pías, N.(1); Wong Matos, F.(1)
(1): Centro de Inmunoensayo, La Habana, Cuba
P048 - Confirmatory Diagnosis OF Biotinidase Deficiency in the National Centre of Medical Genetics: 2006-2013
Moreno Arango, J.(1); Texidor Llopiz, L.(1); Camayd Viera, I.(1); Valdes Fraser, Y.(1); Gámez Torres, G.(1); Martínez Rey, L.(1); Suárez Besil, B.(1)
(1): Centro Nacional de Genética Médica, La Habana, Cuba
P049 - Propionic Acidemia and Humoral Immune Deficiency
De Oliveira Poswar, F.(1); Farret Refosco, L.(1); Wajner, M.(1); Sitta, A.(1); Nori Rodrigues Taniguchi, A.(1); De Sampaio Leite Jobim Wilson, M.(1); Fischinger Moura De Souza, C.(1); Pinto E Vairo, F.(1); Doederlein Schwartz, I.(1)
(1): Hospital de Clínicas de Porto Alegre, Porto Alegre, Brasil
P050 - Hereditary Fructose Intolerance: Clinical Diagnosis in Patient With One Novel Missense Mutation in the Aldolase B Gene
Gonzalez, N.(1); Beltrán, O.(2); Marquez, W.(3)
(1): Universidad Militar Nueva Granada, Bogota, Colombia
(2): Universidad Militar Nueva Granada, Fundación HOMI Hospital de la Misericordia, Bogota, Colombia
(3): Fundacion HOMI Fundación HOMI Hospital de la Misericordia, Bogota, Colombia
P051 - Clinical, Biochemical and Molecular Characterization of an Argentinean Patient With Niemann Pick Type B Disease
Martínez, L.(1); Giner-ayala, A.(2); Oropeza, G.(3); Grinberg, D.(4); Dodelson De Kremer, R.(1)
(1): Centro de estudio de las Metabolopatías Congénitas, CEMECO. Facultad de Ciencias Médicas- UNC, Córdoba, Argentina
(2): Centro de estudio de las Metabolopatías Congénitas, CEMECO. Facultad de Ciencias Médicas-UNC, Córdoba, Argentina
(3): Servicio de Gastroenterología. Hospital Infantil., Córdoba, Argentina
(4): Departament de Genética, Facultat de Biología, Universitat de Barcelona, Barcelona, España
P052 - Molecular Characterization of Phenylketonurics in Uruguay
Méndez, S.(1); Lemes, A.(1); Queijo, C.(1)
(1): Instituto de Seguridad Social—BPS, Montevideo, Uruguay
P053 - Incidence of Phenylketonuria in the Peruvian Social Security Institute Detected by Newborn Screening During 2012-2014
Morales Acosta, M.(1); Dueñas Roque, M.(1); Arteaga Cano, M.(1); Lavado Ariza, M.(1)
(1): Hospital Nacional Edgardo Rebagliati Martins, Lima, Perú
P054 - Phenylketonuria Newborn Screening Experience In México Epidemiological Overview
González Guerrero, J.(1); Delgado González, E.(1); Burciaga Torres, M.(1); Mendiola Ramirez, K.(1); Ferrer Arreola, L.(1)
(1): Instituto Mexicano del Seguro Social, Coordinación de Atención Integral a la Salud en el Primer Nivel, México D.F., Mexico
P055 - Hyperactivity: A Nearly Feature of Homocystinuria, Case Report
Porras, L.(1); Sierra-ramírez, A.(2); Silvestre, J.(3); Muñoz, N.(4)
(1): Clínica Comfamiliar Risaralda, Pereira, Colombia
(2): Colciencias
(3): Universidad de las Americas
(4): Metabolic Therapies
Inherited metabolic disorders comprehend a several diseases more commonly thoughtful in the setting of an acute illness with clinical decompensation. However they could have more insidiously presentation, with behavioral and psychiatric manifestations delaying the identification of the subjacent disorder. Homocystinuria is a chronic and disable illness, which classically has been taken into account their manifestations ophthalmologic, cardiologic and skeletal as marfanoid habit and in general its systemic commitment, neglecting behavioral and psychiatric manifestations, which could be the initial feature of this disorder. In this case report, we are going to describe two siblings diagnosed with homocystinuria, both patients with behavioral disturbances and academic concerns. Patient number one, she was referred to a medical examination because academic concerns, unnoticed the possible diagnoses of inherited metabolic disorder, despite that her parents were consanguineous and she had severe myopia. Only two years later, when she debuted with ectopia lentis the diagnoses was made, it showing as that this patients could be consulting for academic concerns without this kind of etiologies are taken into account. The diagnoses in patient number two is carried out to study in the family, without the features of classic homocystinuria that direct as to thing in this entity. But when the boy is subjected to all examinations, we found the ADHD joined by high levels of homocysteine. Both patients started treatment with nutritional intervention (a controlled-protein diet and a special formula free from methionine) and cofactors (Pyridoxine and Betaine). Patient one, had an undernutrition (BMI: −2.13.SD), not patient two (BMI: −1.50 SD); one year after, both improve nutritional indicators (BMI: −1.84 and −1.40), respectively. The adherence of treatment has been a problem for us, it could be for the age of the patients (a school boy and a teenage girl) and/or their behavioral problems. We arise to suspect inherited metabolic disorder in evaluating children with behavioral or academic concerns
P056 - Mitochondrial Diseases Series of Case Reports
Pereyra, M.(1); Gatica, C.(1); Gamboni, B.(1); Guercio, A.(1); Mayorga, L.(2); Szlago, M.(3); Carbajal, B.(1); Elescano, A.(1); Dri, J.(1)
(1): Hospital Pediatrico Dr. H. J. Notti, mendoza, Argentina
(2): CONICET-UNCuyo, mendoza, Argentina
(3): Hospital Italiano, buenos aires, Argentina
P057 - Hypercalciuric Normocalcemia and Mild Hypoparathyroidism With Pathologic Fracture in a Child: Suspected Dysfunction CASR?
Ramirez Rey, A.(1); Salgado, P.(2); Beltran, O.(3)
(1): Organizacion Sanitas Internacional. Universidad Militar Nueva Granada, Bogota, Colombia
(2): Universidad Militar Nueva Granada, Bogota, Colombia
(3): Organizacion Sanitas Internacional. Universidad militar nueva granada. Fundacion Homi, Bogota, Colombia
P058 - Fundación De Endocrinología Infantil (FEI): 30 Years of Experience in Newborn Screening
Prieto, L.(1); Mendez, V.(1); Enacan, R.(1); Bergadá, I.(1); Chiesa, A.(1); Gruñeiro-papendieck, L.(1)
(1): Fundacion de Endocrinologia Infantil, CABA, Argentina
P059 - Expanded Newborn Screening Experience in the Health Services of the Mexican Army
Madrigal Mendoza, L.(1); Vela Amieva, M.(2)
(1): Secretaría de la Defensa Nacional, Ciudad de México, México
(2): Hospital Infantil de México, Ciudad de México, México
P060 - Results of Expanded Newborn Screening in the Health Services of the Mexican Navy
De La Torre García, O.(1); Trigo Madrid, M.(2)
(1): Secretaria De Marina Armada De México, Mexico D.F., México
(2): Secretaria De Marina Armada De México, Mexico D.F., México
P061 - Advances to Improve Scientific Knowledge and Practice on Rare Diseases Into Higher Education in Latin America
Cismondi, I.(1); Kohan, R.(2); Pesaola, F.(3); Guelbert, N.(2); Becerra, A.(2); Rautenberg, G.(4); Oller-ramìrez, A.(2); Noher De Halac, I.(5)
(1): CEMECO-Hospital de Niños- Facultad de Odontologia- Universidad Nacional de Cordoba, Córdoba, Argentina
(2): CEMECO-Hospital de Niños, Córdoba, Argentina
(3): CEMECO-Hospital de Niños y CONICET, Córdoba, Argentina
(4): CEMECO-Hospital de Niños, Còrdoba, Argentina
(5): CEMECO-Hospital de Niños y CONICET, Còrdoba, Argentina
P062 - Nutritional Status and Body Composition of Patients With Hepatic Glycogen Storage Diseases
Nalin, T.(1); Bento Dos Santos, B.(1); Castrogrokoski, K.(1); Schweigert Perry, I.(2); Farret Refosco, L.(3); Pinto E Vairo, F.(3); Fishinger Moura De Souza, (3); Doederlein Schwartz, I.(1)
(1): Universidade Federal do Rio Grande do Sul, Porto Alegre, Brasil
(2): Universidade do Extremo Sul Catarinense, Criciúma, Brasil
(3): Hospital de Clínicas de Porto Alegre, Porto Alegre, Brasil
P063 - Targeted Metabolomics Reveals Changes Caused by Biotin Deprivation in Rats
Ibarra-gonzález, I.(1); Hernández-vázquez, A.(1); Vela-amieva, M.(2); Velázquez-arellano, A.(1)
(1): Instituto de Investigaciones Biomédicas—UNAM, México D.F., México
(2): Instituto Nacional de Pediatría, México D.F., México
P064 - Triheptanoin as a Potential Treatment for Genetic Disorders of Energy Metabolism
Marsden, D.(1); Kakkis, E.(2)
(1): Ultragenyx Pharmaceuticals, Novato, United States
(2): Ultragenyx Pharmaceuticals, Novato, United States
(O-1.1) Oral Communications I—NBS
O01 - Neonatal Screening Program for Central Congenital Hypothyroidism
Braslavsky, D.(1); Prieto, L.(2); Keselman, A.(1); Gruñeiro-papendieck, L.(1); Enacan, R.(2); Méndez, V.(2); Saveanu, A.(3); Reynaud, R.(3); Brue, T.(3); Bergadá, I.(1); Chiesa, A.(1)
(1): CEDIE- CONICET-FEI- División de Endocrinología, Hospital de Niños R. Gutiérrez, Buenos Aires, Argentina
(2): Fundacion de Endocrinologia Infantil, Buenos Aires, Argentina
(3): Hôpital Conception, Service d’Endocrinologie, Diabète et Maladies Métaboliques, Marseille, Francia
O02 - Etiology and Evolution in Newborns With Congenital Hypothyroidism and Mildly Elevated TSH Screening Cut-Off
Signorino, M.(1); Sobrero, G.(1); Testa, G.(1); Boyanovsky, A.(1); Silvano, L.(1); Collet, I.(1); Martin, S.(1); Franchioni De Muñoz, L.(1); Miras, M.(1)
(1): Hospital de Niños de la Santisima Trinidad, Córdoba, Argentina
O03 - Cuban National Newborn Screening Program for Congenital Adrenal Hyperplasia From 2005-2014: A Reality
Carvajal Martínez, F.(1); González Reyes, E.(2); Espinosa Reyes, T.(1); Frómeta Suárez, A.(2); Castells Martínez, E.(2); Arteaga Yera, A.(2); Pérez Moras, P.(2); Carlos Pías, N.(2); Fernández Yero, J.(3)
(1): Instituto de Endocrinología, La Habana, Cuba
(2): Centro de Inmunoensayo, La Habana, Cuba
(3): Grupo de las Industrias Biotecnológica y Farmacéuticas, La Habana, Cuba
O04 - Continuous Improvement in the Newborn Screening Program of the State of Rio De Janeiro, Brazil
O-1.2 - Oral Communications I—EIM
O05 - Phenylalanine Hydroxylase (PAH) Production in L. Plantarum as a Potential Orally Administered Enzyme Replacement Therapy
Ramírez, A.(1); Rodriguez, A.(1); Ardila, A.(2); Sanchez, O.(3); Almeciga, C.(1)
(1): Pontificia Universidad Javeriana, Bogota, Colombia
(2): Hospital Universitario San Ingacio, Bogota, Colombia
(3): Purdue University, West Lafayette, Estados Unidos
O06 - Epigenetic Alterations in Niemann-Pick Type C Models: Neuronal Gene Repression Mediated by the C-ABL/HDAC2 Pathway
Contreras, P.(1); González-zuñiga, M.(1); González-hódar, L.(2); Alvarez, A.(1); Zanlungo, S.(2)
(1): Cell Signaling Laboratory. Biological Sciences Faculty. Pontificia Universidad Católica de Chile., Santiago, Chile
(2): School of Medicine, Pontificia Universidad Católica de Chile., Santiago, Chile
O07 - Identification of Modifiable Epitopes for the ARSB Enzyme by a Computational Approach
Olarte, S.(1); Rodriguez, A.(2); Alméciga-diaz, C.(2)
(1): Universidad Colegio Mayor de Cundinamarca, Bogota, Colombia
(2): Pontificia Universidad Javeriana, Bogota, Colombia
O08 - Production of Human Recombinant Iduronate-2-Sulfatase in Two Microbial Hosts
Pimentel-vera, L.(1); Bonilla, Y.(1); Rodríguez, A.(1); Diaz, D.(1); Espejo, Á.(1); Poutou-piñales, R.(2); Alméciga-diaz, C.(1); Barrera, L.(1)
(1): Instituto de Errores Innatos Del Metabolismo; Pontificia Universidad Javeriana, Bogota, Colombia
(2): Grupo de Biotecnología Ambiental e Industrial (GBAI); Pontificia universidad Javeriana, Bogota, Colombia
(P-2) Poster Session With Authors II
P065 - Expanded Newborn Screening Program in One Center in Santiago De Chile: 8 Year Experience and Challenges
Valiente, A.(1); Pinto, M.(2); Cabello, J.(1)
(1): INTA, Universidad de Chile, Santiago, Chile
(2): Clinica Las Condes, Santiago, Chile
P066 - Review of the Immunoreactive Trypsinogen (IRT) Cutoff Value For Neonatal Screening of Cystic Fibrosis (CF)
Odriozola, A.(1); Junco, M.(2); Gotta, G.(2); Dratler, G.(2); Smithuis, F.(2); Hunt, M.(2); Marino, S.(2); Gonzalez, V.(2); Teper, A.(2); Muntaabski, P.(2); Aranda, C.(2); Glikman, P.(2)
(1): Programa de Pesquisa Neonatal. Gobierno de la Ciudad de Buenos Aires, Buenos Aires, Argentina
(2): rograma de Pesquisa Neonatal. Gobierno de la Ciudad de Buenos Aires, Buenos Aires, Argentina
P067 - Qualitative Survey Tool to Evaluate Neonatal Screening Centers: Neonatal Screening Program (NSP) Zulia-Venezuela Experience
Costagliola Martorona, A.(1); Chacin Hernandez, J.(2); Ocando Pino, L.(3); Mejia Millan, I.(4); Torres, E.(3); Torres Chirinos, Y.(3); Picado Gutierrez, J.(3)
(1): Fundacion Hospital De Especialidades Pediatricas, Maracaibo, Venezuela
(2): La Universidad del Zulia; Institito de Investigaciones Geneticas, Maracaibo, Venezuela
(3): Fundacion Hospital de Especialidades Pediatricas; Laboratorio de Salud Publica, Maracaibo, Venezuela
(4): Fundación Hospital de Especialidades Pediatricas, Maracaibo, Venezuela
P068 - Phenylketonuria: Analysis of Adiponectin, Biomarkers and Anthropometric Parameters
Hack Mendes, R.(1); Castro, K.(2); Nalin, T.(3); Tonon, T.(4); Siebert, M.(5); Chrisostomo, P.(5); Poloni, S.(1); Oliveira, F.(1); De Souza, C.(5); Vairo, F.(5); Schwartz, I.(5);
(1): PPGBM-UFRGS—Pós Graduação em Genética e Biologia Molecular, Porto Alegre, Brasil
(2): PPGSCA-UFRGS—Pós Graduação em Saúde da Criança e do Adolescente, Porto Alegre, Brasil
(3): PPGBM-UFRGS—Pós Graduação em Genética e Biologia Molecular (Av. Bento Gonçalves, 9500, Porto Alegr, Porto Alegre, Brasil
(4): PPGCM-UFRGS—Pós Graduação em Medicina: Ciências Médicas, Porto Alegre, Brasil
(5): SGM-HCPA—Serviço de Genética Médica-Hospital de Clínicas de Porto Alegre, Porto Alegre, Brasil
P069 - Phenylketonuria: Analysis of Gut Microbiome Using Next-Generation Sequencing
Oliveira, F.(1); Refosco, L.(2); Dobbler, P.(3); Vairo, F.(2); Mendes, R.(1); Roesch, L.(3); Schwartz, I.(2)
(1): Universidade Federal do Rio Grande do Sul, Porto Alegre, Brasil
(2): SGM-HCPA—Serviço de Genética Médica-HCPA, Porto Alegre, Brasil
(3): Universidade Federal do Pampa, São Gabriel, Brasil
P070 - BH4 Loading Test for Evaluation of Neonatal Hyperphenylalaninemia
Specola, N.(1); Núñez Miñana, M.(1); Muschietti, L.(1); Borrajo, G.(2); Procopio, D.(1)
(1): Hospital de Niños, La Plata, Argentina
(2): Fundación Bioquímica Argentina, La Plata, Argentina
P071 - Molecular Analysis for Galactosemia Was Implemented in the Neonatal Screening Program of the Province of Santa Fe, Argentina
Maggi, L.(1); Cabrera, A.(2); Fain, H.(2); Benetti, S.(3)
(1): Laboratorio Provincial de PN de ECM de Santa Fe, Santo Tome, Argentina
(2): Hospital Vilela, Rosario, Argentina
(3): Cemar, Rosario, Argentina
P072 - Evaluation of a New Algorithm for Cystic Fibrosis in Neonatal Screening
Maggi, L.(1); Benetti, S.(2); Arguellles, A.(1); Flaherty, P.(2)
(1): Laboratorio Provincial de PN de ECM de Santa Fe, Santa Fe, Argentina
(2): Cemar, Rosario, Argentina
P073 - Endocrinopathies Detected by Newborn Screening: Epidemiological Overview
Burciaga Torres, M.(1); Delgado González, E.(1); González Guerrero, J.(1)
(1): Instituto Mexicano del Seguro Social, Coordinación de Atención Integral a la Salud en el Primer Nivel, México D.F., Mexico
P074 - First Year of Metabolic Control Guidelines and its Impact on Future Metabolic Control and Cognitive Performance in Children Affected With PKU
De La Parra, A.(1); García, M.(1)
(1): LabGEM INTA, Santiago, Chile
P075 - Energy Expenditure in Children With Maple Syrup Urine Disease (MSUD)
Campo Perez, K.(1); Castro, G.(1); Valerie, H.(1); Arias, C.(1); Cabello, J.(1); Cornejo, V.(1)
(1): Inta, Santiago, Chile
P076 - Anthropometric Assessment in Children and Adolescents With Classical Phenylketonuria
Zayas Torriente, G.(1); Torriente Valle, J.(2); Carrillo Estrada, U.(3); Díaz Fuentes, Y.(1); Abreu Soto, D.(4); Martínez Rey, L.(5)
(1): Instituto Nacional de Higiene, Epidemiología, La Habana, Cuba
(2): Instituto Nacional de higiene, epidemiología y Microbiología, La Habana, CUBA
(3): Hospital pediátrico marfan-borrás, La habana, Cuba
(4): Instituto nacional de Higiene, epidemiología y Mirobiología, La Habana, Cuba
(5): Centro Nacional de Genética Médica, La Habana, Cuba
P077 - Study of Three Years of Newborn Screening for Cystic Fibrosis in the Public Health System in Southern Brazil
Castro, S.(1); Rispoli, T.(2); Dornelles, C.(3); Chapper, M.(4); Fischer, G.(4); Malerba, H.(4); Fillipon, L.(5)
(1): Serviço Referência Triagem Neonatal RS/UFRGS, Porto Alegre, Brasil
(2): Centro de Desenvolvimento Científico e Tecnológico (CDCT)—FEPPS/UFRGS, Porto Alegre, Brasil
(3): Centro de Desenvolvimento Científico e Tecnológico (CDCT)—FEPPS, Porto Alegre, Brasil
(4): Serviço de Referência em Triagem Neonatal do Rio Grande do Sul, Porto Alegre, Brasil
(5): Serviço de Referência em Triagem Neonatal RS, Porto Alegre, Brasil
P078 - Statistical Analysis for the Preanalytical Stage Sampling for Newborn Screening in Costa Rica
Obando Rodriguez, S.(1); Jimenez Hernandez, M.(2); Saborio Rocafort, M.(2)
(1): Asoc. Costarricense Para El Tamizaje, San Jose, Costa Rica
(2): Hospital Nacional De Niños, San Jose, Costa Rica
P079 - Prevalence of Hemoglobin Patterns in Newborns Screened in the Public Health System in Rio Grande Do Sul State, Southern Brazil, From 2004 to 2014
Castro, S.(1); Grandi, T.(2); Diedrich, V.(3); Filippon, L.(3); Weber, C.(3); Macedo, J.(3)
(1): Serviço Referência Triagem Neonatal RS/Universidade Federal do Rio Grande do Sul, Porto Alegre, Brasil
(2): Centro de Desenvolvimento Científico e Tecnológico (CDCT)—Fundação Estadual de Produção e Pesquisa, Porto Alegre, Brasil
(3): Serviço Referência Triagem Neonatal RS, Porto Alegre, Brasil
P080 - Anthropometric State Evaluation of Children Diagnosed With Maple Syrup Urine Disease (MSUD) Attended in a Reference Service in Newborn Screening in Salvador, Bahia, Brazil
Santos Calmon, L.(1); Da Anunciação Do Espírito Santo, D.(1); Efigenia De Queiroz Leite, M.(1); Cristian Amaral Boa Sorte, N.(2); Kraychete Costa, B.(2); Amorim, T.(2)
(1): APAE/UFBA, Salvador, BRASIL
(2): APAE/UNEB, Salvador, BRASIL
P081 - Clinical and Laboratory Characterization of Patients With Maple Syrup Urine Disease Followed in a Reference Service for Newborn Screening in Salvador, Bahia, Brazil
Santos Calmon, L.(1); Da Anunciação Do Espírito Santo, D.(2); Efigenia De Queiroz Leite, M.(2); Cristian Amaral Boa Sorte, N.(3); Kraychete Costa, B.(3); Amorim, T.(3)
(1): APAE-SALVADOR, Salvador, BRASIL
(2): APAE/UFBA, Salvador, BRASIL
(3): APAE/UNEB, Salvador, BRASIL
P082 - Description of Nutritional Deficiencies in Children With Maple Syrup Disease (MSUD) in Dietary Treatment Attended in Reference Service of Newborn Screening in Salvador, Bahia, Brazil
Santos Calmon, L.(1); Da Anunciação Do Espírito Santo, D.(1); Efigenia De Queiroz Leite, M.(1); Cristian Amaral Boa Sorte, N.(2); Kraychete Costa, B.(2); Amorim, T.(2)
(1): APAE/UFBA, Salvador, BRASIL
(2): APAE/UNEB, Salvador, BRASIL
P083 - Cystic Fibrosis Birth Prevalence Diagnosed by Expanded Neonatal Screening in Yucatan, Mexico
Campos García, F.(1); Contreras Capetillo, S.(2); Loría Fernández, J.(1); Martínez Cruz, P.(3); Maldonado Solís, F.(1); Salazar Escalante, R.(1); Ibarra González, I.(4); Vela Amieva, M.(4)
(1): Tamiz Ampliado de Yucatán, Mérida, México
(2): Hospital General “Dr. Agustín OHorán”, Mérida, México
(3): Tamizaje Plus, Villahermosa, México
(4): Instituto Nacional de Pediatría, D.F., México
P084 - External Quality Assessment for the Detection of Phenylketonuria: Results of the Buenos Aires Programme
Vilche Juarez, A.(1); Farquharson, V.(1); Del Vecchio, L.(1); Torres, M.(1)
(1): CEMIC. Centro de Educación Médica e Investigaciones Clínicas “ Norberto Quirno”, Ciudad Autonoma de Buenos Aires, Argentina
P085 - Glucose-6-Phosphate Dehydrogenase Deficiency: Three Years Experience in Neonatal Screening Program and its Incidence in Federal District, Brazil
Reis, B.(1); Viegas, M.(2); Toledo, L.(1); Teixeira, R.(1); Vasconcelos, G.(1); Adjuto, G.(1); Cardoso, M.(1); Thomas, J.(1)
(1): Hospital de Apoio de Brasília
(2): Hospital de Apoio de Brasília, Brasília-Distrito Federal, Brasil
P086 - Maternal Phenylketonuria: A Preventable Cause of Microcephaly
Fernandes Lorea, C.(1); De Oliveira Poswar, F.(1); Konzen, D.(1); Lopes Carneiro, K.(1); Tonon, T.(1); Refosco, L.(1); Fischinger De Souza, C.(1); Vairo, F.(1); Schwartz, I.(1)
(1): Hospital de Clínicas de Porto Alegre, Porto Alegre, Brasil
Phenylketonuria (PKU) is an autosomal recessive disorder of the amino acid metabolism. It results from a deficiency of phenylalanine hydroxylase, leading to increased serum levels of phenylalanine. According to the Brazilian Ministry of Health, the prevalence of PKU was 1:23,000 live births. Phenylalanine (Phe) is a well-known teratogen; it affects mainly fetal brain and heart development. Methods: Chart review. Results: We report three cases of affected mothers and their offspring outcomes. Patient 1 presented for first consultation after her two children were born. She had no previous diagnosis, but her sister was diagnosed with PKU and did not follow the treatment. Both children were microcephalic, small for gestational age (SGA), had intellectual deficiency and normal echocardiograms. Patient 2 had neonatal diagnosis of phenylketonuria and abandoned follow-up. At age 25, she returned pregnant (9+4 weeks) for evaluation, blood Phe was 1185 mmol/L. She had difficulties following recommended diet and was admitted into the hospital twice during pregnancy for control. The baby was male, born at 38 weeks, appropriate for gestational age, occipitofrontal diameter (OFC) at third percentile, no congenital heart defects, normal development. Patient 3 had a late diagnosis of phenylketonuria, mild intellectual deficiency, irregular treatment since diagnosis. The pregnancy was unplanned and she sought treatment at 27+2 weeks, with phenylalanine of 877 mmol/L. Due to previous history of non-adherence to treatment, she was hospitalized until full term. The baby was male, 38 weeks, OFC at third percentile, SGA and normal heart morphology. All three women had unplanned pregnancies, with inadequate control of phenylalanine levels. All four children were microcephalic, three were also SGA and none had heart defects. Conclusions: Due to the large number of unplanned pregnancies in our country patients should be followed at experienced centers during adolescence and through reproductive age. Appropriate counselling should be provided to all patients before reproductive age. We suggest that patients who maintain regular consultations until adulthood are more prone to adhere to treatment before conception during pregnancy, thus ensuring better offspring outcome. The management should be done by a multidisciplinary team at an experienced center.
P087 - Determination of Genotypic and Clinical Characteristics of Colombian Patients With Morquio A Syndrome
Tapiero, S.(1); Acosta, J.(2); Porras, L.(3); Garcia, N.(4); Solano, M.(5); Velasco, H.(1)
(1): Maestría en Genética Humana, Universidad Nacional de Colombia, Bogota, Colombia
(2): Instituto de Investigación en Nutrición, Genética y Metabolismo de la Universidad el Bosque, Bogota, Colombia
(3): Caja de compensación familiar Risaralda, Risaralda, Colombia
(4): Universidad de Caldas, Caldas, Colombia (5): Fundación Cardio infantil, Bogota, Colombia
P088 - β-Glucosidase Gene Mutations in Patients With Gaucher Disease in Western Venezuela
Méndez, K.(1); Borjas, L.(1); Pardo, T.(1); Sánchez, Y.(1); Zabala, W.(1); Miranda, L.(1); Gómez, G.(2)
(1): Instituto De Investigaciones Genéticas De La Facultad De Medicina L.U.Z., Maracaibo, Venezuela
(2): Instituto Venezolano De Investigaciones Cientificas, Los Teques, Venezuela
P089 - Newborn Screening for Congenital Adrenal Hyperplasia (CAH): Improving the Effectiveness of the Neonatal 17OH-Progesterone (N17OHP) and Serum Confirmatory Tests
Hayashi, G.(1); Carvalho, D.(2); Miranda, M.(2); Gomes, L.(2); Madureira, G.(2); Mendonça, B.(2); Bachega, T.(2)
(1): APAE DE SÃO PAULO e Hospital das Clinicas—FMUSP, São Paulo, Brasil
(2): Hospital das Clinicas—FMUSP, São Paulo, Brasil
P090 - Distribution of 17OH-Progesterone Values by Birth Weight, Gestational Age and Sex in a Population of Mexican Newborns
Herrera Pérez, L.(1); Moreno Graciano, C.(1); Martínez Cruz, P.(1); Arias Vidal, C.(1); Maldonado Solís, F.(1); Maldonado Solís, M.(1); Vela Amieva, M.(2); Ibarra González, I.(3); Chablé Cupil, G.(4)
(1): Tamizaje Plus S.A de C.V, Villahermosa, Tabasco, México
(2): Laboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, México, D.F., México
(3): Instituto de Investigaciones Médicas. UNAM, México, D.F., México
(4): Hospital del Niño Rodolfo Nieto Padrón, Villahermosa, Tabasco, México
P091 - Relation Between Positivity of 17 Hydroxyprogesterone Determination and Non Eutocic Childbirths
González Fernández, R.(1); Arteaga Yera, A.(2); Martínez Ramos, J.(1); Del Río Fabre, L.(1)
(1): Centro de Inmunoensayo, La Habana, Cuba
(2): Centro de Inmunoensayo, La Haban, Cuba
P092 - Congenital CLN8 Neuronal Ceroid Lipofuscinosis Disease: A New Phenotype
Pesaola, F.(1); Cismondi, I.(2); Pons, P.(3); Guelbert, N.(4); Becerra, A.(4); Xin, W.(5); Kohan, R.(4); Rautenberg, G.(6); Oller-ramirez, A.(6); Noher De Halac, I.(1)
(1): CEMECO-Hospital de Niños y CONICET, Córdoba, Argentina
(2): CEMECO-Hospital de Niños y Facultad de Odontología, Universidad Nacional de Córdoba, Córdoba, Argentina
(3): Centro de Microscopìa Electrónica, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Córdoba, Argentina
(4): CEMECO-Hospital de Niños, Córdoba, Argentina
(5): Massachusetts General Hospital, Neurology Department, Center for Genetic Research, Boston, MA02334, Estados Unidos
(6): CEMECO-Hospital de Niños, Còrdoba, Argentina
P093 - Standardization of TPP1 Assays for Testing Neuronal Ceroid Lipofuscinosis LCN2 Disease
Pesaola, F.(1); Gelbert, N.(2); Cismondi, I.(3); Becerra, A.(2); Pons, P.(4); Rautenberg, G.(5); Oller-ramìrez, A.(2); Kohan, R.(5); Noher De Halac, I.(6)
(1): CEMECO-Hospital de Niños y CONICET, Córdoba, Argentina
(2): CEMECO-Hospital de Niños, Córdoba, Argentina
(3): CEMECO-Hospital de Niños y Facultad de Odontología, Universidad Nacional de Córdoba, Córdoba, Argentina
(4): Centro de Micrsocopía Electrónica, Facultad de Ciencias Mèdicas, Universidad Nacional de Córdoba, Córdoba, Argentina
(5): CEMECO-Hospital de Niños, Còrdoba, Argentina
(6): CEMECO-Hospital de Niños-CONICET, Córdoba, Argentina
P094 - Identification of Recombinant Alleles in GBA1 Gene in Patients With Neuronopathic and Non-Neuronopathic Gaucher Disease
Basgalupp, S.(1); Siebert, M.(2); Vairo, F.(3); Schwartz, I.(3)
(1): Programa de Pós-Graduação em Medicina: Ciências Médicas, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
(2): Centro de Pesquisa Experimental, Hospital de Cínicas de Porto Alegre, Porto Alegre, Brazil
(3): Serviço de Genética Médica, Hospital de Cínicas de Porto Alegre, Porto Alegre, Brazil
P095 - Diagnosis of Lysosomal Storage Diseases in Cuba: Period 2013-2015
Larrinaga Vicente, L.(1); Acosta Sánchez, T.(1); Menéndez Saínz, M.(2); Martínez Rey, L.(1); Contreras Roura, J.(1); González Reyes, E.(3); Torres, D.(1); De León Ojeda, N.(4); Morales Perralta, E.(1); Tamayo Chang, V.(5); Labaut, K.(6); Zaldívar, T.(2); García, A.(4)
(1): Centro Nacional de Genética Médica, La Habana, Cuba
(2): Instituto de Neurología y Neurocirugía, La Habana, Cuba
(3): Centro de Inmunoensayos, La Habana, Cuba
(4): Hospital William Soler, La Habana, Cuba
(5): Centro Provincial de Genética de Holguín, La Habana, Cuba
(6): Instituto de Hematología e Inmunología, La Habana, Cuba
P096 - Differences in Oxidative Stress Parameters Between Mucopolysaccharidoses I and VI
Cé, J.(1); Mello, A.(2); Funchal, C.(3); Dani, C.(3); Coelho, J.(1)
(1): Departamento de Bioquímica do ICBS- UFRGS, Porto Alegre, Brasil
(2): Departamento de Bioquímica do ICBS- UFRGS; Centro Universitário Metodista-IPA, Porto Alegre, Brasil
(3): Centro Universitário Metodista-IPA, Porto Alegre, Brasil
Patients with MUCOPOLYSACCHARIDOSES (MPS) are characterized by biomolecular and tissue damage that results in the accumulation of glycosaminoglycans (GAGs) not degraded in the cells of various organs and systems. High levels of reactive oxygen species (ROS) have been associated with oxidative stress and inflammation being related to cellular changes characteristic, caused by changes in metabolic pathways of individuals with Inborn Errors of Metabolism. The aim of this study was to measure superoxide dismutase (SOD), catalase (CAT) and thiobarbituric acid reactive substances (TBARS) in plasma of MPS I and VI individuals. Three biomarkers of oxidative stress were evaluated in individuals suffering from MPS I (n = 7) and MPS VI (n = 7), deficiency in α -L-iduronidase and Arylsulfatase B enzymes, respectively; apart from healthy controls (HC) [n = 14]. The antioxidant capacity of blood plasma was measured by enzyme superoxide dismutase (SOD) and catalase (CAT), since the damage to lipids (lipid peroxidation) was measured by the presence of thiobarbituric acid reactive substances (TBARS). ANOVA followed by the Tukey Post-Hoc, with Pearson correlation was used to compare results of analysis of plasma with those of both HC and MPS patients. Analysis was performed using statistical software package SPSS 17 (SPSS Inc., Chicago, IL, USA), and level of significance was set at P < 0.05. We found a significant increase (p = 0.02) in lipid peroxidation (TBARS) in MPS I, but MPS VI no change in any of the parameters studied was observed. Analyzing SOD and CAT, there were no significant differences (p > 0.05) among the groups. As the MPS I and MPS VI disease are characterized by rare diseases, the sample size of this study was low. However, with the analysis of the results, there was an increase in damage to lipids in MPS I suggesting that this disease is more vulnerable to oxidative damage that MPS VI.
P097 - Rating Leukocyte Alpha-Glucosidase Using a Natural Substrate for the Diagnostic Approach of Pompe Disease
Uribe Ardila, A.(1); Moreno Silva, P.(2)
(1): Universidad de los Andes, Bogota, Colombia
(2): Universidad de los Andes
P098 - Biotinidase Deficiency Newborn Screening Experience in México: Epidemiological Overview
Ferrer Arreola, L.(1); Burciaga Torres, M.(1); Delgado González, E.(1); González Guerrero, J.(1); Mendiola Ramírez, K.(1)
(1): Instituto Mexicano del Seguro Social, Coordinación de Atención Integral a la Salud en el Primer Nivel, México D.F., Mexico
P099 - Molecular Study of Phenylketonuria in Cuba: 2007-2013
Lopez He Chavarria, K.(1); Pilot Roque, Y.(1); Collazo Mesa, T.(1); Gomez Martinez, M.(1); Reyes Navarro, L.(1); Martínez Rey, L.(1)
(1): Centro Nacional de Genética Médica, La Habana, Cuba
P100 - Evaluation of Quality Indicators of a National Newborn Screening Program
Delgado González, E.(1); Burciaga Torres, M.(1); González Guerrero, J.(1)
(1): IMSS Coordinación de Atención Integral a la Salud en el Primer Nivel, México D.F., Mexico
P101 - Long-Term Safety and Efficacy of Taliglucerase Alfa in Pediatric Patients With Gaucher Disease Who Were Treatment-Naive or Previously Treated With Imiglucerase
Gonzalez-rodriguez, D.(1); Zimran, A.(2); Abrahamov, A.(2); Cooper, P.(3); Varughese, S.(3); Giraldo, P.(4); Petakov, M.(5); Tan, E.(6); Brill-almon, E.(7); Chertkoff, R.(7)
(1): Instituto Privado de Hematologia e Investigacion Clinica, Asuncion, Paraguay
(2): Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
(3): Department of Paediatrics, University of the Witwatersrand, Johannesburg, South Africa
(4): CIBERER, Instituto Ivestigacion Sanitaria Aragon, Zaragoza, Spain
(5): Clinic of Endocrinology, Diabetes and Metabolic Disease, Belgrade University Medical School, Belgrade, Serbia
(6): Genetics Service, Department of Paediatric Medicine, KK Womens and Childrens Hospital, Singapore, Singapore
(7): Protalix BioTherapeutics, Carmiel, Israel
P102 - Comparison of Taliglucerase Alfa 30 U/kg and 60 U/kg in Treatment-Naive Pediatric Patients With Gaucher Disease
Gonzalez-rodriguez, D.(1); Zimran, A.(2); Abrahamov, A.(2); Cooper, P.(3); Varughese, S.(3); Brill-almon, E.(4); Lewis, D.(5); Wanjrach, M.(6); Chertkoff, R.(4)
(1): Instituto Privado de Hematologia e Investigacion Clinica, Asuncion, Paraguay
(2): Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
(3): Department of Paediatrics, University of the Witwatersrand, Johannesburg, South Africa
(4): Protalix BioTherapeutics, Carmiel, Israel
(5): Meridian Medical Technologies, Columbia, United States
(6): Pfizer, New York, United States
P103 - Comparison Analysis of Gene and Exome Sequencing Technology for diagnosis of MPS Complex Disease in a Group of Patients From Southwestern Region of Colombia
Sanchez, A.(1); Satizabal, J.(1); Garcia, F.(1); Jordan, K.(2); Moreno, L.(1); Montoya, J.(1)
(1): Universidad del Valle, Cali, Colombia
(2): University of Georgia Tech, Atlanta, USA
P104 - Impact on Pre- and Post-Analytical Factors After Implementation of a Newborn Screening Program
Suldrup, N.(1); Cesari, N.(1); Naretto, A.(1)
(1): Iaca Laboratorios, Bahia Blanca, Argentina
P105 - External Quality Assurance Program for Neonatal Screening (PEEC-PN): A 15-Year Trajectory
Borrajo, G.(1); Pistaccio, L.(1); Parente, M.(1)
(1): Programa de Evaluación Externa de Calidad. Fundación Bioquímica Argentina, La Plata, Argentina
P106 - Evaluation of the Influence of Collecting Newborn Screening Samples Using Two Different Filter Papers During the Same Time Period
Borrajo, G.(1)
(1): Detección de Errores Congénitos. Fundación Bioquímica Argentina, La Plata, Argentina
P107 - Wolman Disease … Not so Wolman
Bay, L.(1); Bindi, V.(2); Andrea, B.(2); Miriam, C.(2); Hernan, E.(2)
(1): Hospital Nacional de Pediatría J.P.Garrahan, CABA, argentina
(2): Idem,
Acid lipase is an hydrolase which acts on cholesterol esters and triglycerides. It´s deficiency cause Wolman disease (W.D.) or cholesterol esters storage disease an autosomal recessive entity in which cholesterol and triglycerides accumulate in various tissues (liver, spleen, lymph nodes, adrenal glands, intestine and macrophages). When it shows symptoms in the first months of life, those are severe(vomiting, diarrhea, malabsorption, malnutrition, liver and spleen enlargement, adrenal calcification) and clinical course is uniform with mortality around one year of age.(W.D.).In children or adults,(storage disease cholesterol esters)have moderate symptoms, but leads to cirrhosis and liver failure, with higher survival. We present the first case of W.D. in literature with different characteristics.
P108 - Liver Transplant in Niemann Pick B (NPB): Report of 3 Cases
Mabe, P.(1); Acuña, M.(2); Miquel, J.(3); Benitez, C.(4); Jarufe, N.(2); Roa, J.(5); Arrese, M.(2); Martínez, J.(6); Barriga, F.(7); Zanlungo, S.(3)
(1): Hospital de Niños Dr. Exequiel González Cortés, Santiago, Chile
(2): Departamento de Gastroenterología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile
(3): Departamento de Gastroenterología, Facultad de Medicina, Pontificia Universidad Católica de Chile. F, Santiago, Chile
(4): 3Departamento de Cirugía Digestiva, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile
(5): Departamento de Anatomía Patológica Pontificia Universidad Católica de Chile, Santiago, Chile
(6): Departamento de Cirugía, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile
(7): Departamento de Pediatría, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile
NPB is a sphyngolipidosis due to acid sphingomyelinase deficiency. Clinical signs are hepatosplenomegaly, pancytopenia, dyslipidemia, bleeding diathesis, interstitial lung damage, cirrhosis. No specific treatment is available. We report 3 NPB Chilean patients, homozygous for p.Ala359Asp mutation, which underwent successful liver transplant due to liver failure.
P109 - Enzymatic Diagnosis of Mucopolysaccharidosis IVA in Chile
Betta, K.(1); Valiente, A.(1); Letelier, M.(1); Fuanzalida, K.(1); Peña, K.(1); Cabello, J.(1)
(1): Laboratorio de Enfermedades Metabólicas (INTA), Santiago, Chile
P110 - The Use of Tandem Mass Spectrometry in Newborn Screening
Wiley, V.(1)
(1): The Children’s Hospital at Westmead, Westmead, Australia
Electrospray ionisation tandem mass spectrometry (MSMS) has now been incorporated in many dried blood spot newborn screening programs worldwide. There have been many changes in methodology since it was first used to prospectively screen dried blood spot samples from newborns for inborn errors of amino acids, fatty acid oxidation and organic acidurias. However despite many attempts to harmonize its introduction, it remains the responsibility of each programme to determine which disorders are to be screened, what sample to use, and what is acceptable performance. For each analyte tested there is sample, analytical and interpretative considerations. Sample aspects include the optimal time of collection after birth, the effect of feed status and gestational age. Analytical considerations include the instrumentation, sample preparation, establishing action limits, normal percentiles and expected results for proven positives as well as appropriate quality assurance protocols. The followup algorithms for diagnosis, which may include ratios of analytes or second tier testing on the initial sample as well as additional samples of urine and blood, need to optimize the performance metrics of resample rate, sensitivity, specificity and positive predictive value. Using various MSMS protocols since 1998, we have screened samples collected at 48-72 hours of age from over 1,655,000 babies, requested further samples from 0.15%, and detected a disorder in 1:2691 babies with a sensitivity, specificity and positive predictive value which are currently 99%, 99.9% and 25% respectively. Babies requiring treatment included 198 with phenylketonuria, 153 with other amino acid disorders, 108 with medium chain acyl CoA dehydrogenase deficiency and 212 others with acyl carnitine defects. The use of tandem mass spectrometry in newborn screening is expanding to include many other disorders. The challenge remains how to learn from each other.
P111 - Newborn Screening of Special Cases—Preterm Newborns, Low Birth Weight Infants and Severely Ill Infants: Establishing a National Protocol
Camelo Jr, J.(1); M Carvalho, T.(2); Goldbeck, A.(2); Marchi, A.(2); J Zamaro, P.(2)
(1): Faculdade de Medicina de Ribeirão Preto/USP, Ribeirao Preto, Brasil
(2): Ministerio da Saude, Brasilia, Brasil
P112 - Stability of Creatine Kinase in Dried Blood Spots
Hall, E.(1); De Jesus, V.(1)
(1): US Centers for Disease Control and Prevention, Atlanta, USA
P113 - Anesthesia for MRI and Diagnostic Tests in Mucopolysaccharidosis Patients
Moraes Ferreira, M.(1); Dalla-corte, A.(2); Fischinger M. De Souza, C.(1); Giugliani, R.(2)
(1): Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil
(2): Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
P114 - Description of 11 Cases of Neuronalceroid Lipofuscinosis
Witting, S.(1); Troncoso, M.(1); Ortega, P.(1); Troncoso, L.(1); Santander, P.(1); Barrios, A.(1); Guzmán, G.(1); Fariña, G.(1)
(1): Servicio de Neurología infantil, Hospital San Borja Arriaran, Santiago, Chile
P115 - Identification of the Genetic Mutations of a Group of Chilean Patients With Mucopolysaccharidosis Type II Diagnostics
Troncoso, M.(1); Márquez Félix, E.(2); Rozenfeld, P.(3)
(1): Servicio de Neuropsiquiatría Infantil Hospital Clínico San Borja Arriarán. Facultad de Medicina, Campus Centro, Universidad de Chile, Santiago, Chile
(2): ervicio de Neuropsiquiatría Infantil Hospital Clínico San Borja Arriarán. Facultad de Medicina, Camp, Santiago, Chile
(3): Laboratorio DIEL. Facultad de Ciencias Exactas de la Universidad Nacional de la Plata—CONICET, Buenos Aires, Argentina
P116 - Prevalence of Sickle Cell Trait and Sickle Cell Anemia From the Neonatal Screening Program in the Pará State, Brazil in 2014
Leitão, A.(1); Nascimento, E.(1); Trindade, E.(2); Silva, O.(1)
(1): Universidade Federal do Pará, Belem, Brasil
(2): Universidade Estadual do Pará, Belem, Brasil
P117 - Quality Guarantee of Neonatal Screening Assays
González Quintero, A.(1); López Brauet, L.(1); Turró Grau, G.(1); Sabina Cebreiros, M.(1); Lefrán Gómez, M.(1)
(1): Centro de InmunoEnsayo, Habana, Cuba
P118 - Perception That Medical Students Have About Neonatal Screening Tests for Inborn Metabolic Diseases in Four Hospitals
Dussan, A.(1); Yasno, D.(1); Ramirez Rey, A.(1); Beltran, O.(1)
(1): Facultad De Medicina Universidad Militar Nueva Granada, Bogota, Colombia
P119 - Molecular Characterization of Patients With Mucopolysaccharidosis IVA in south Western Colombia
Pachajoa, H.(1); Posso, J.(1); Rámirez, A.(1); Ruíz, F.(1)
(1): Universidad Icesi, Cali, Colombia
Morquio syndrome A, (Mucopolysaccharidosis IV A, MPS IVA) is a lysosomal storage disease caused by the deficiency of N-acetylgalactosamine-6-sulfatase (GALNS). Molecular studies in Colombian patients with MPS IVA, and especially in south western Colombia, are very scarce. The purpose of this study was to mutations on the GALNS gene on patients with MPS IVA from south western Colombia by amplifying and sequencing the exons and the adjacent intronic regions of this gene in seven unrelated families. The result of this was the identification of 14 mutant alleles containing six different mutations. Three novel mutations were found (c.998G>A p.G333D, c.214T>A p.Phe72Ile, c.425A>T p.His142Leu), and three mutations previously identified mutations were found as well (c.901G>T p.Gly301Cys, c.280C>T p.R94C, c.1156C>T p.Arg386Cys). Furthermore, it was found that the most frequent mutation in south western Colombia in patients with MPS IVA is c.901G>T p.Gly301Cys, since this mutation was found as homozygous affecting three families, and as heterozygous in two families. The conclusion of this was that the GALNS gene mutation spectrum in south western Colombia patients with MPS IVA is broad; however, there is a high prevalence of the c.901G>T p.Gly301Cys mutation.
P120 - Neuroclinical and Neuroradiological Aspects of Mucopolysaccharidosis Type II Patients Following at Centro De Referencia Em Erros Inatos do Metabolismo (CREIM) of Universidade Federal De Sao Paulo (UNIFESP)
Mendes, C.(1); Curiati, M.(1); Rand, M.(1); Martins, A.(1)
(1): CREIM—UNIFESP, Sao Paulo, Brasil
P121 - A New Mutation in the Intron of the IDS Gene in an Adult Patient with Mucopolysaccharidosis Type II
Pachajoa, H.(1); Posso, J.(1)
(1): Universidad Icesi, Cali, Colombia
Mucopolysaccharidosis type II (Hunter syndrome) is a rare X-linked lysosomal storage disorder. It is caused by mutations in the gene that produces the lysosomal enzyme Iduronate sulphatase (IDS), resulting in incomplete degradation of heparan and dermatan sulphate in the lysosomes. Main symptoms include skeletal dysplasia, vision impairment, heart and valve disfunction, among others. In the present work we present the case of a 33 year old patient with a new mutation in the intron 1 of the IDS gene (c.103+2T>A).
P122 - The Role of the Laboratory in the Early Diagnosis of Cystic Fibrosis
Cánepa, P.(1); López, M.(2); Alonso, P.(3)
(1): Pesquisa Neonatal-Laboratorio Central de Salúd Pública del Chaco, Resistencia, Argentina
(2): Laboratoriio de Genética Molecular e Histocompatibilidad. Gran Hospital Dr. Julio C. Perrando, Resistencia, Argentina
(3): Laboratorio Área Química clínica del Hospital Pediátrico Dr. Avelino castelán, Resistencia, Argentina
P123 - Cystic Fibrosis: Diagnosis on Newborn Screening in Espirito Santo State, Brazil
Bravin, C.(1); Motta Correia, S.(1); Fardin, S.(1); Sarquis Cintra, T.(1); Passamani, E.(1); Goulart, S.(1)
(1): Apae Vitória Es Brasil, Vitória, Brazil
P124 - Neonatal Screening for Hemoglobinopathies in Mexico: An Analysis of 277,760 Newborns
Martinez Cruz, P.(1); Herrera Pérez, L.(1); Moreno Graciano, C.(1); Maldonado Solís, F.(2); Maldonado Solís, M.(2); Sanchez Zebadua, R.(3); Salazar Escalante, R.(4); Díaz Gallardo, J.(5); Trigo Madrid, M.(5); De La Torre García, O.(5); Madrigal Mendoza, L.(6); Arias Vidal, C.(1)
(1): Tamizaje Plus S. A de C. V, Villahermosa, México
(2): Químicos Maldonado S.A de C.V, Villahermosa, México
(3): TamizMas de Químicos Maldonado Unidad Chiapas, Tuxtla Gutierrez, Chiapas
(4): TamizMas de Químicos Maldonado Unidad Yucatán, Mérida, Yucatán
(5): Secretaria de Marina Armada de México, Distrito Federal, México
(6): Secretaria de la Defensa Nacional, Distrito Federal, México
P125 - Response to Compassionate Use of Triheptanoin in Infants With Cardiomyopathy Due To Long Chain Fatty Acid Oxidation Defects (LC-FAODS)
Sampaio Filho (Jr), Claudio(1)
(1): INTERCIENTIFICA, S.J.Campos, Brasil
P126 - When Two Conditions With Similar Features Meet: A Case of Erdheim Chester Disease in a Patient With a Common Genetic Disorder
Estrada-veras, J.(1); Obrien, K.(1); Gahl, W.(1)
(1): National Institutes of Health—National Human Genome Research Institute, Bethesda, MD, United States
P127 - Methylmalonic Acidemia
Herrera Gana, M.(1); Muñoz, M.(1); Rojas C, A.(1)
(1): Hospital Clinico Universidad de Chile, Santiago, Chile
Methylmalonic academia is a methylmalonic metabolic disease caused by the deficiency or absence of methylmalonyl-CoA mutase enzyme involved in the metabolism of the amino acids methionine, threonine, valine and isoleucine. There forms that may be due to failure of the Cobalamin. The accumulation of Methylmalonic acid in the blood causes according to the type of alteration, symptoms such as food refusal, vomiting, impaired consciousness and neonatal-onset seizures or variant forms that arise from slightest way at later ages. A case is presented, in which an infant, with a history of being newborn term without perinatal pathology, daughter of consanguineous parents, that at 4 months post pentavalent vaccine box in left-sided clonic seizures associated with flicker. At this time it is interpreted as a 2nd vaccination. Two EEG Videos are taken and reported as normal. Computed axial tomography informed to be normal. Nuclear Magnetic Resonance regular shows hyperintensity of pale nuclei, bulbar pyramid and signs of decreased brain volume predominantly front-temporal that may correspond to degenerative inherited metabolic disease (AGT1). Admitted to our hospital with history of one week of decreased stool consistency, coryza, decay. To this a seizure is added with limb movement and blink about 20 min duration. She comes to the emergency service, where is noted that she is feverish, at that time after overall evaluation she is discharged with paracetamol every 6 hrs, however sub-fever persisted with respiratory symptoms and watery stools. The patient decided to consult again and on the way it presents blink and lower limb movements. It is hospitalized for study and management.
P128 - Galactosemia Due to Galactokinase Deficiency: Report of a New Mutation in a Mexican Patient
Torres Sepúlveda, M.(1); Martínez Garza, L.(1); Díaz Alvarado, L.(1); López Uriarte, G.(1); Sánchez Peña, A.(1); Villarreal Pérez, J.(2); Ranieri, E.(3)
(1): Departamento de Genética UANL, Monterrey Nuevo León, México
(2): Servicios de Salud de Nuevo León, Monterrey Nuevo León, México
(3): Women´s and Children´s Hospital, Adelaide, Australia
P129 - Hyperornithinemia: Diagnostics and Nutritional Food Handling on the First Case Reported in Cuba
Zayas Torriente, G.(1); Carrillo Estrada, U.(2); Torriente Valle, J.(3); Robaina, Z.(4); Abreu Soto, D.(1)
(1): Instituto Nacional de Higiene, Epidemiología y Microbiología, La Habana, Cuba
(2): Hospital pediátrico marfan-borrás, La habana, Cuba
(3): Instituto Nacional de Higiene, Epidemiología y microbiolofgía, La habana, Cuba
(4): Centro Nacional de Genética Médica, La habana, Cuba
P130 - Can the Same Platform of Tandem Mass Spectrometry on Newborn Screening of Amino Acid and acylcarnitine be Used for Investigation of Symptomatic Patients? A 4-Year Experience
Piazzon, F.(1); Garcia, L.(1); Arita, D.(1); Martins, H.(1); Silva, E.(1); Kok, F.(2); Bueno, C.(2); Hadachi, S.(1)
(1): Associação de Pais e Amigos dos Excepcionais de São Paulo, São Paulo, Brazil
(2): Universidade de São Paulo, São Paulo, Brazil
P131 - Three Cases of Niemann Pick Type C: Clinical, Biochemical and Molecular Aspects
Lemes, A.(1); Zabala, C.(1); Cerisola, A.(2); Cabrera, A.(1); Castro, M.(1); Fernandez, L.(1)
(1): Instituto de Seguridad Social-BPS, Montevideo, Uruguay
(2): Facultad de Medicina-Cátedra de Neuropediatria, Montevideo, Uruguay
P132 - Renal Failure in Propionic Acidemia, Not Such an Infrequent Complication: Report of 2 Cases
Arias Pefaur, C.(1); Campo, K.(1); Bravo, P.(1); Cabello, J.(1); Manterola, C.(2); Castro, G.(1); Hamilton, V.(1); Cornejo, V.(1); Valiente, A.(1)
(1): Instituto de Nutrición y Tecnología de los alimentos, Santiago, Chile
(2): Hospital Luis Calvo Mackenna, Santiago, Chile
P133 - Diagnosis, Management and Follow Up of Patients With Maple Syrup Urine Disease: Report of a Case
Martínez Rey, L.(1); Contreras Roura, J.(1); Camayd Viera, I.(1); Nogueras Rodríguez, L.(1); Padrón Díaz, A.(1); Busto Aguiar, R.(2); Zayas Torriente, G.(3); Falcón Rodríguez, D.(4); Rodríguez Hernández, E.(2); González Reyes, E.(5)
(1): Centro Nacional de Genética Médica, La Habana, Cuba
(2): Hospital Pediátrico Matanzas, Matanzas, Cuba
(3): Instituto de Nutrición e Higiene de los Alimentos, La Habana, Cuba
(4): Centro Provincial de Genética de Matanzas, Matanzas, Cuba
(5): Centro de Inmunoensayo, La Habana, Cuba
P134 - Atypical Nonketotic Hyperglycinemia by Dysfunction of T Protein of Glycine Cleavage System
Salgado, P.(1); Galvis, J.(2); Vargas, C.(2); Ramírez, A.(1); Beltrán, O.(3); Guio, L.(2); Marquez, W.(2)
(1): Facultad de Medicina. Universidad Militar Nueva Granada, Bogota, Colombia
(2): Fundación HOMI Hospital de la Misericordia, Bogota, Colombia
(3): Facultad de Medicina. Universidad Militar Nueva Granada. Fundación HOMI Hospital de la Misericordia, Bogota, Colombia
P135 - Pregnancy in a Patient With Mucopolysaccharidosis Type I (MPS I) Treated With Enzyme Replacement Therapy—Case Report
Silva, A.(1); Souza, C.(1); Sanseverino, M.(1); Magalhães, J.(1); Vairo, F.(1); Fagondes, S.(1); Manica, D.(1); Barrios, P.(1); Dalla-corte, A.(1); Giugliani, R.(1)
(1): Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil
P136 - Hyperphenylalaninemia and BH4 Deficiency: Two Case Reports
Bravin, C.(1); Sarquis Cintra, T.(1); Passamani, E.(1); Correa Motta, S.(1); Fardin, S.(1); Goulart, S.(1)
(1): Apae Vitória Es Brasil, Vitória, Brazil
P137 - An Unusual Sight of the Epilepsy: ATP1A3 Mutations
Fiesco Roa, M.(1); Kleinert Altamirano, A.(1); Brockmann, K.(2)
(1): Crit Chiapas, Tuxtla Gutiérrez, Chiapas, México
(2): Faculty of Medicine, University of Göttingen, Göttingen, Germany
P138 - Experience in Management of a Patient With Ethylmalonic Encephalopathy
Morales Acosta, M.(1); Dueñas Roque, M.(1); Prötzel Pinedo, A.(1)
(1): Hospital Nacional Edgardo Rebagliati Martins, Lima, Perú
P139 - Nutritional Treatment for Maple Syrup Urine Disease (MSUD): A Case Report
Sanchez Peña, M.(1); Serrato Sanchez, K.(2); Bazaldua Ledesma, V.(2); Leyva Mendez, P.(2)
(1): Departamento De Genética Facultad De Medicina Universidad Autonoma De Nuevo Leon, Monterrey Nuevo Leon, Mexico
(2): Facultad De Salud Pública Y Nutrición Universidad Autonoma De Nuevo Leon, Monterrey Nuevo Leon, Mexico
P140 - Lysinuric Protein Intolerance (LPI), Report of 2 New Cases
Durand, C.(1); Szlago, M.(2); Marchione, M.(1); Salina, M.(1); Weil, K.(1); Carabajal, R.(1); Schenone, A.(1)
(1): FESEN-Laboratorio de Neuroquímica “Dr. N.A. Chamoles”, Buenos Aires, Argentina (2): Enfermedades Metabólicas, Servicio de Genética. Hospital de Niños “Ricardo Gutierrez”, Buenos Aires, Argentina
P141 - A 3-Month-Old Boy Presenting With Fulminant Hepatic Failure and Mitochondrial Depletion Syndrome With a Homozygous Missense Variant in the POLG2 Gene
Iglesias, A.(1); Wou, K.(2); Naini, A.(2); Hirano, M.(2)
(1): Columbia University Medical Center, Hastings on Hudson, USA
(2): Columbia University Medical Center
P142 - Pelizaeus Merzbacher: A Rapidly Fatal Leukodystrophy
Salgado Riaño, P.(1); Castillo Brito, J.(1); Beltrán Casas, O.(2)
(1): Facultad de Medicina, Universidad Militar Nueva Granada., Bogotá, Colombia
(2): Facultad de Medicina, Universidad Militar Nueva Granada. Fundación HOMI Hospital de la Misericordia, Bogotá, Colombia
P143 - Optic Nerve Enlargement in a Case of Krabbe Disease
Araya, G.(1); Oliva, B.(1); Cabello, J.(1); Andrade, L.(2); Campodonico, P.(1); Vega, S.(1); Arriagada, P.(1); Zambrano, K.(1)
(1): Universidad de Valparaíso, Valparaíso, Chile
(2): Hospital Carlos Van Buren, Valparaíso, Chile
P144 - Magnetic Resonance Patterns in Children With Adrenoleukodystrophy
Araya, S.(1); Troncoso, M.(1); Araya, S.(1); Santander, P.(1); Troncoso, L.(1); López, F.(1); Barrios, A.(1); Muñoz, D.(1); Guzman, G.(1)
(1): Servicio Neuropsiquiatría Infantil Hospital Clínico San Borja Arriaran, Facultad de Medicina, Campus Centro, Universidad de Chile, Santiago, Chile
P145 - Methylmalonic Acid (MMA), One Metabolite-Several Diseases
Spécola, N.(1); Núñez, M.(1); Salerno, M.(1); Muschietti, L.(1); Fuertes, A.(2); Schenone, A.(2)
(1): Hospital de Niños de La Plata, La Plata, Argentina
(2): FESEN CABA, Buenos Aires, Argentina
P146 - Parenting Styles and Coping Strategies in Congenital Hypothyroid Children
Pardo Campos, M.(1); Musso, M.(2); Keselman, A.(3); Bergadá, I.(4); Gruñeiro -papendieck, L.(3); Chiesa, A.(3)
(1): Fundacion de Endocrinologia Infantil. Universidad Catolica Argentina, CABA, Argentina
(2): CIPME (Conicet)-UADE, CABA, Argentina
(3): CEDIE-CONICET-FEI-División de Endocrinología, Hospital de Niños R. Gutiérrez, CABA, Argentina
(4): CEDIE-CONICET-FEI- División de Endocrinología, Hospital de Niños R. Gutiérrez, CABA, Argentina
P147 - Investigation of Inborn Errors of Metabolism (IEM) in Cartagena de Indias, Colombia: Experience of 13 Years
Alvear, C.(1); Barboza, M.(1); Moneriz, C.(1); Suárez, A.(1); Ocampo, J.(1)
(1): Universidad de Cartagena, Cartagena, Colombia
Acknowledgment
University of Cartagena-Research Vice-Rectory.
P148 - Membrane Protein Carbonylation Patterns of Human Erythrocytes in G6PD-Deficient And HBS Patients
Quinto, A.(1); Contreras, N.(1); Alvear, C.(1); Rodríguez, E.(1); Moneriz, C.(1); Fanco, O.(2); Méndez, D.(1)
(1): Universidad de Cartagena, Cartagena, Colombia
(2): Universidade Católica, Brasilia, Brasil
Acknowledgment
University of Cartagena, genomic and proteomics lab of Universidade Catolica de Brasilia and Colciencias by financial support Grant 1107-569-33704.
P149 - Real-World Experience in the Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 (CLN2): Report From an International Collaboration of Experts
Noher De Halac, I.(1); Miller, N.(2); Mole, S.(3); L. Cohen-pfeffer, J.(2); Crystal, R.(4); De Los Reyes, E.(5); Eto, Y.(6); Fietz, M.(7); Héron, B.(8); Izzo, E.(2); Kohlschütter, A.(9); Marques Lourenço, C.(10); A. Pearce, D.(11); Socorro Pérez-poyato, M.(12); Simonati, A.(13); Schulz, A.(9);
(1): Universidad Nacional de Córdoba, Facultad de Ciencias Médicas, Cordoba, Argentina, Cordoba, Argentina
(2): BioMarin Pharmaceutical Inc., Novato, CA, USA, Novato, USA
(3): MRC Laboratory for Molecular Cell Biology, University College London, London, UK, London, UK
(4): Department of Genetic Medicine, Weill Cornell Medical College, New York, NY, USA, New York, USA
(5): Department of Pediatric Neurology, Nationwide Children’s Hospital, The Ohio State University, Columbus, USA
(6): Advanced Clinical Research Center, Southern Tohoku Brain Research Center, Kawasaki, Japan, Kawasaki, Japan
(7): SA Pathology, North Adelaide, South Australia, Australia, North Adelaide, South Australia, Australia
(8): Department of Pediatric Neurology, Trousseau Hospital, CHU Paris Est, Paris, France, Paris, France
(9): Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany, Hamburg, Germany
(10): Department of Medical Genetics, School of Medicine of Ribeirao Preto, University of São Paulo, São P, São Paulo, Brazil
(11): Sanford Children’s Health Research Center, Sioux Falls, South Dakota, USA, South Dakota, USA
(12): Pediatric Neurology, Hospital Universitario Marqués de Valdecilla, Cantabria, Spain, Cantabria, Spain
(13): Department of Neurological and Movement Sciences-Neurology, University of Verona, Verona, Italy, Verona, Italy
P150 - Gastrostomy Improves Chronic–Acute Malnutrition in Patients With Inborn Errors of Metabolism
Guillén López, S.(1); Vela-amieva, M.(2); Juárez-cruz, M.(3); González Zamora, J.(2); Monroy-santoyo, S.(2); Belmont-martínez, L.(2)
(1): Instituto Nacional de Pediatría, D.F., México
(2): Instituto Nacional de Pediatría, D.F., México
(3): Instituto Politécnico Nacional, D.F., México
P151 - Experiences for More Than 20 Years in the Nutritional Management of Patients Diagnosed With Galactosemia
Carrillo Estrada, U.(1); Zayas Torriente, G.(2); Torriente Valle, J.(3); Abreu Soto, D.(3); Henriquez, L.(1)
(1): Hospital Docente Marfan-Borrás, La Habana, Cuba
(2): Instituto Nacional de Higiene, Epidemiologia y Microbiología, La Habana, Cuba
(3): Instituto Nacional de Higiene, Epidemiología, La Habana, Cuba
P152 - Systematic Review of Liver Cancer Differential Expression Analysis Using Oncomine: Genes Causing Hepatic Glycogenosis and its Implication in Hepatocarcinogenesis
Vallejo Ardila, D.(1); Doederlein Schwartz, I.(2)
(1): Universidade Federal do Rio Grande do Sul (UFRGS)—Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brasil
(2): Universidade Federal do Rio Grande do Su (UFRGS)l—Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brasil
Glycogen storage is emerging as a metabolic survival pathway of cancer cells. The glycogen synthesis is enhanced in non-cancer and cancer cells when exposed to hypoxia, resulting in a large increase in glycogen storage. The objective of this study was to use Oncomine to identify individual expression patterns of genes causing Hepatic Glycogenosis and their possible implication in hepatocarcinogenesis. The target genes with respect to each type of Hepatic Glycogenosis for the systematic review were: G6PC (Ia), AGL (III), GBE1 (IV), PYGL (VI), PHKA2 (IXa), PHKB (IXb) and PHKG2 (IXc). We chose to perform differential expression analysis using two separate categories: Normal vs. Cancer and Cancer vs. Cancer. Oncomine processes and normalizes each dataset used in these analyses independently. For the differential expression analysis, they use t-statistics with false discovery rates as a corrected measure of significance. We sorted the results based on each class of analysis, noted the significant studies produced, and then created a boxplot with the results of this analysis. The results across several studies revealed that G6PC was over-expressed in Cancer vs. Cancer; it was underexpressed in Hepatocellular Carcinoma vs. Normal. AGL was underexpressed in Hepatocellular Carcinoma vs. Normal. GBE1 was overexpressed in Cancer vs. Cancer; it was under-expressed in Hepatocellular Carcinoma vs. Normal. PYGL was over-expressed in Cancer vs. Cancer; it was under-expressed in Hepatocellular Carcinoma vs. Normal. PHKA2 was over-expressed in Cancer vs. Cancer; it was under-expressed in Focal Nodular Hyperplasia vs. Normal. PHKB was over-expressed in Cancer vs. Cancer; it was under-expressed in Focal Nodular Hyperplasia vs. Normal. PHKG2 was over-expressed in Cancer vs. Cancer; it was under-expressed in Hepatocellular Carcinoma vs. Normal. This analysis provided substantial preliminary evidence as to the significance of our target genes in hepatocarcinogenesis. Point mutations in those genes causing loss of enzymatic function are recognized as the cause of Hepatic Glycogenosis. What still remains unknown is the level of connectivity up-stream or regulation pattern in both sporadic and hereditary liver cancer. In a future study, we are intending to identify genes as significantly co-expressed in a meta-analysis on Myc, ChREBP, and HIF1.
P153 - Homocystinuric Patients With Cystathionine Beta-Synthase (CBS) Deficiency. Study of Genotype-Phenotype Correlation: 15 Years’ Experience in Cemeco, Argentina
Grosso, C.(1); Urreizti, R.(2); Balcell, S.(2); Grinberg, D.(2); Dodelson De Kremer, R.(1)
(1): Centro de Estudio de las Metabolopatías Congénitas, CEMECO, Hospital de Niños, Fac. Cs. Médicas, UNC, Córdoba, Argentina
(2): Departament de Genética, Universitat de Barcelona, Barcelona, Spain
Classical homocystinuria is the most commonly inherited disorder of sulfur metabolism, caused by the genetic alterations in cystathionine beta-synthase, CBS gene, and is characterized by multiple connective tissue disturbances, mental retardation and mainly, thromboembolic complications. The expression of all clinical signs is extremely variable. The first choice of therapy consists of administration of mega doses of pyridoxine (B6). The response to this treatment establishes two phenotypic variants: B6-responsive homocystinuria and B6-nonresponsive. Excluding some CBS mutations, detailed genotype-phenotype correlation for different CBS mutations has not been established in literature. The aim of the present report is communicate clinical, biochemical and molecular findings in eight non-related patients with CBS deficiency, in order to assess the correlation between genotype and phenotype, in these patients. Lens ectopia was the common diagnostic symptom (n=8, 100% ocular presentation); followed by a variable CNS involvement (n=6, 75%), as a main neurological presentation; marfanoid features (n=3, 37,5% connective tissue presentation) and, thromboembolic events (n=2, 25% vascular presentation). Three patients were B6-responsive (37,5%) and the remaining 62,5%, result B6-nonresponsive to the treatment with pyridoxine. All 16 alleles were identified; five of which had already been reported, and six are novel (p.A446S, p.429delI, p.D321V, c.689delT, c.677-14-7del8 and c.69_70+8del10). In addition, the thrombophilic nucleotide change MTHFR c.677 C>T was investigated to assess their contributions to the clinical spectrum. Seven of them were heterozygous for this condition; it suggest that the effect of this polymorphism on clinical phenotype of CBS is not very clear since the distribution of thrombophilic change does not differ among our patients. This study extends the molecular findings in eight Argentinian probands with Classical homocystinuria, and discusses the clinical presentations and putative effects of the CBS mutations.
P154 - Undescribed Altered Biotinidase Activity in Metabolic Pathologies Unrelated to defects in the Cycle of Biotin
Angaroni, C.(1); Hill, L.(1); Giner-ayala, A.(1); Oller-ramirez, A.(1); Bezard, M.(1); Dodelson De Kremer, R.(1)
(1): CEMECO. Hospital de Niños de la Santísima Trinidad. Facultad de Ciencias Médicas, UNC, Córdoba, Argentina
P155 - Cerebellar Hypometabolism and Cognitive Deficits in Erdheim Chester Disease: Just Accumulation of Histiocytes or Secondary Metabolic/Endocrine Deficits?
Estrada-veras, J.(1); Obrien, K.(1); Toro, C.(1); Gahl, W.(1)
(1): National Institutes of Health—National Human Genome Research Institute, Bethesda, MD, USA
P156 - Is Alfa 1 Antitrypsin Heterozygosity A Phenotype Modifier for Glycogen Storage Disorders?
Besen, A.(1); Vairo, F.(1); Souza, C.(1); Nalin, T.(1); Leistner-segal, S.(1); D. Schwartz, I.(1)
(1): Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil
P157 - Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency: Acylcarnitine (AC) Profile in Two Different Situations: Newborn Screening Versus Metabolic Decompensation
Schenone, A.(1); Fuertes, A.(1); Velasquez Rivas, D.(1); Maccarone, M.(1); Fernández, J.(1); Guinle, A.(1); Massari, M.(1); Marchione, M.(1); Sokn, S.(1)
(1): FESEN-Laboratorio de Neuroquimica “Dr. N. A. Chamoles”, Buenos Aires, Argentina
P158 - Nutritional Status by Anthropometry in Children Diagnosed With Inborn Errors of Metabolism
Sanchez Peña, M.(1); Serrato Sanchez, K.(2); Lopez Uriarte, G.(2); Torres Sepulveda, M.(2); Arredondo Vazquez, P.(3); Torres, M.(3); Villarreal Perez, J.(3); Martinez Garza De Villarreal, L.(2)
(1): Universidad Autonoma de Nuevo Leon, Guadalupe Nuevo Leon, Mexico
(2): Departamento de Genética, Facultad de Medicina, Universidad Autonoma de Nuevo Leon, Monterrey Nuevo Leon, Mexico
(3): Servicios de Salud de Nuevo Leon, Monterrey Nuevo Leon, Mexico
P159 - Groups of Health Education in Ceaps: An Accession Strategy to Youth Treatment With Phenylketonuria
Isabel Spínola Castro, I.(1); Raíssa Hilda, R.(2); Elisabelle Letícia, E.(2); Josiane Cecília Alves, J.(2); Adriana Temponi, A.(2)
(1): Universidade Federal de Minas Gerais/Faculdade de Medicina, Belo Horizonte, Brasil
(2): Universidade Federal de Minas Gerais/Faculdade de Medicina, Belo Horizonte, Brasil
References
Dall ‘Agnol, CM. Working with groups as a forum for learning in health. Magazine Gaucho Nursing. 2007;28(1):21-26.
Eisenstein, E. Adolescence: definitions, concepts and criteria. Adolescence and Health. 2005.
Figueroa, D. Food standards: from theory to practice—the case of Brazil. Mneme Journal of Humanities. 2001. Available at Center for Action and Research in Support Diagnostics. Accessed: 07/05/2015.
Dayrell Juarez. The young man as a social subject. Journal of Education. 2003;(24):40-52.
P160 - Epilepsy Associated to Inborn Errors of Metabolism, Study, and Evolution of 68 Patients
Witting, S.(1); Troncoso, M.(1); Canales, P.(1); Santander, P.(1); Guzmán, G.(1); Rojas, C.(1); Troncoso, L.(1); Barrios, A.(1); Hernández, A.(1)
(1): Servicio Neurología Infantil Hospital San Borja Arriarán, Campus Centro Universidad de Chile, Santiago, Chile
P161 - Metal Inborn Errors of Metabolism (MIEM): Clinical, Laboratory, and Radiological Features
Saez, V.(1); Troncoso, M.(2); Gittermann, K.(2); Hidalgo, M.(2); Muñoz, D.(2); Santander, P.(2); Troncoso, L.(2); Retamales, A.(3); Barrios, A.(2); Witting, S.(2); Guzman, G.(2); Fariña, G.(2); Rivera, G.(3)
(1): Hospital San Borja Arriaran, Santiago, Chile
(2): Hospital San Borja Arriaran, Santiago, Chile
(3): Hospital Regional Temuco, Temuco, Chile
P162 - Glycogen Storage Disease Type III (GSDIII): Clinical Characterization of a Group of Chilean Patients
Mabe, P.(1); Sfeir, C.(1); Giadach, C.(1)
(1): Hospital de Niños Dr. Exequiel González Cortés, Santiago, Chile
GSDIII is a recessive hereditary disorder due to deficiency of glycogen debranching enzyme. Clinical manifestations are of variable severity and are secondary to glycogen storage in the liver, heart, and skeletal muscle. The patients present with hepatomegaly, hypoglycemia, hyperlipidemia, myopathy and growth retardation. The therapy is based on a rich carbohydrate and protein diet. No specific treatment is available.
P163 - Child Mortality in Brazil: An Epidemiological Study on Inborn Metabolic Disorders of Intermediary Metabolism
Hendges De Bitencourt, F.(1); Sales Vianna, F.(2); Doederlein Schwartz, I.(2)
(1): Universidade Federal Do Rio Grande Do Sul—Hospital de Clínicas de Porto Alegre, Porto Alegre, Brasil
(2): Hospital de Clínicas de Porto Alegre, Porto Alegre, Brasil
(P-3) Poster Session With Authors III
P164 - Incidence of Cystic Fibrosis: A Decreasing Trend Throughout the Years
Borrajo, G.(1); Procopio, D(1); D Alessandro, V.(2); Diez, G.(2);
(1): Detección de Errores Congénitos. Fundación Bioquímica Argentina, La Plata, Argentina
(2): Servicio de Neumonología. Hospital de Niños “Sor María Ludovica”, La Plata, Argentina
P165 - Monitoring of Congenital Hypothyroidism in Tucuman, Argentina’s Neonatal Screening Program
Luna Claraso, A.(1); Chahla, R.(2); Graiff, O.(3); Elias, A.(4); Alvarez Sollazi, C.(5); Albarracin, M.(5); Granito, S.(5); Bazan, C.(6)
(1): Instituto de Maternidad Ntra. Sra. de las Mercedes, San Miguel de Tucumán, Argentina
(2): Inst. de Maternidad Ntra. Sra. de las Mercedes. Fac. de Medicina. Universidad Nacional de Tucumán
(3): Inst. de Maternidad Ntra. Sra. de las Mercedes
(4): Inst. de Maternidad Ntra. Sra. de las Mercedes. Fac. de Bqca, Qca y Fcia. UNT
(5): Hospital del Niño Jesús
(6): Hospital del Niño Jesús. Fac. de Medicina. Universidad Nacional de Tucumán
P166 - 22 Years of Experience in Newborn Screening for Congenital Hypothyroidism
Borrajo, G.(1); Dietz, M.(1); Castillo, P.(1); Doña, V.(1); González, V.(2); Tournier, A.(3)
(1): Detección de Errores Congénitos. Fundación Bioquímica Argentina, La Plata, Argentina
(2): Sala de Endocrinología. Hospital de Niños “Sor María Ludovica”, La Plata, Argentina
(3): Laboratorio Central. Hospital de Niños “Sor María Ludovica”, La Plata, Argentina
P167 - Relationship Between Anthropometric Development and Metabolic Control of Children With Diagnosis of Maple Syrup Urine Disease (MSUD) Monitored in a Reference Service in Newborn Screening (RSNS)
Santos Calmon, L.(1); Da Anunciação Do Espírito Santo, D.(1); Efigenia De Queiroz Leite, M.(1); Cristian Amaral Boa Sorte, N.(2); Kraychete Costa, B.(2); Amorim, T.(2)
(1): APAE/UFBA, Salvador, Brasil
(2): APAE/UNEB, Salvador, Brasil
P168 - Outcome in Patients With Phenylketonuria (PKU): What Should be Improved?
Fain, H.(1); Cabrera, A.(1); Gatti, M.(1); Campbell, C.(1); Blanco, V.(1); Buiras, V.(1); Bonetto, V.(1)
(1): Hospital de NIños V. J. Vilela, Rosario, Argentina
P169 - The Role of the Psychologist as a facilitator of Mourning From Preparation Helping Improve Adherence to Treatment of Phenylketonuria
Isabel Spínola Castro, I.(1); Claudia Do Couto, C.(2); Jonantan De Oliveira, J.(2); Josiane Cecília Alves, J.(2); Luís Canto, L.(2)
(1): Universidade Federal de Minas Gerais, Belo Horizonte, Brasil
(2): Universidade Federal de Minas Gerais/Faculdade de Medicina, Belo Horizonte, Brasil
References
PINHEIRO, Maria Teresa da Silveira; QUINTELLA, Rogerio Robbe; VERZTMAN, Julio Sergio. Distinção teórico-clínica entre depressão, luto e melancolia. Psicol. clin. [online]. 2010;22(2):147-168. ISSN 0103-5665. http://dx.doi.org/10.1590/S0103-56652010000200010.
FERRARI, Andrea Gabriela; PICCININI, Cesar A.; LOPES, Rita Sobreira. O bebê imaginado na gestação: aspectos teóricos e empíricos. Psicologia em estudo.2007;12(2):305-313.
FREUD, Sigmund. Luto e melancolia. Editora Cosac Naify. 2013.
FRANCO, Vitor. Paixão-dor-paixão: pathos, luto e melancolia no nascimento da criança com deficiência*. Revista Latinoamericana de Psicopatologia Fundamental.2015;18(2).
GÓES, Fernando Antônio de Barros. Um encontro inesperado: os pais e seu filho com deficiência mental. Psicologia: ciência e profissão.2006;26(3):450-461.
MENDLOWICZ, Eliane. The vicissitudes of mourning. Ágora: Estudos em teoria psicanalítica. 2000;3(2):87-96.
P170 - The Feasibility of Using an MSMS Based Method With Perkin Elmer Lysosomal Storage Disease (LSD) Reagents to Implement a Newborn Screening Test for Six LSD
Ranieri, E.(1); Stark, S.(2); Gelb, M.(3)
(1): Biochemical Genetics, Directorate of Genetics & Molecualr Pathology, SAPathology at the Women’s & Children’s Hospital, Adelaide, Australia
(2): Biochemical Genetics, Directorate of Genetics & Molecualr Pathology, SAPathology at the Women’s & Ch, Adelaide, Australia
(3): Department of Chemistry, University of Washington WA, Washington, USA
A study was undertaken to determine the feasibility of an Mass Spectrometry based method with PerkinElmer (PE) tandem mass spectrometry (MSMS) lysosomal storage disease (LSD) reagents to determine the activity of six LSD enzymes in dried blood spots (DBS): galactocerebroside β-galactosidase (Krabbe disease), acid α-galactosidase A (Fabry disease), acid sphingomyelinase (Niemann Pick A/B disease), acid α-glucosidase (Pompe disease), α-L-iduronidase (mucopolysaccharidosis type I) and acid β-glucocerebrosidase (Gaucher disease). De-identified DBS were sourced from the South Australian newborn population (n=1,000) and confirmed positive LSD cases (n=75) from the National Referral Laboratory (NRL). The PE LSD reagents make use of optimized substrates and unique stable isotopes for each of the 6 enzyme reactions. All 6 assays are performed in a single incubation reaction buffer from one 3mm DBS in a microtitre plate format. The activity of each enzyme is determined by stable isotope dilution MSMS using flow injection analysis. Following the enzyme reaction, a single organic solvent extraction and reconstitution in acetonitrile/water carrier buffer is performed, followed by flow-injection into an API5000 MSMS. Each multiple reaction mode (MRM) pair for the 6 LSD substrates/products was optimized on the API5000 MSMS using the following parameters: IS voltage 5000, DP 95, CE 55 and CXP 15, at a flow rate of 80 µl/min using an Agilent 1200 HPLC and autosampler, Reference ranges for each enzyme were determined from the analysis of 1,000 DBS from a normal newborn population. In addition, enzyme activities in DBS from patients affected by Krabbe disease, Fabry disease, Niemann Pick disease A/B, MPS I, Pompe disease or Gaucher disease were used to develop action limits for each respective LSD. The linearity and sensitivity of each of the 6 LSD assays was determined using leukocyte preparations from normal and affected LSD cases. Analysis of the 6 relevant enzyme activities was also compared between the PE LSD reagents and the current fluorometric substrates used by the NRL for the diagnosis of LSD. The results of this study will be presented indicating the feasibility of using the PE LSD MSMS reagents.
P171 - Lysosomal Acid Lipase in Dried Blood Spots (DBS) in Argentinean Population
Frabasil, J.(1); Gaggioli, D.(1); Carozza, P.(1); Sokn, S.(1); Durand, C.(1); Schenone, A.(1);
(1): FESEN-Laboratorio de Neuroquimica, Buenos Aires, Argentina
P172 - Evaluation of Long-Term Stability of Lysosomal Enzyme Activities in Dried Blood Spots in Different Storage Conditions
Frabasil, J.(1); Gaggioli, D.(2); Carozza, P.(3); Sokn, S.(2); Schenone, A.(3)
(1): FESEN-Laboratorio de Neuroquimica “DR. N. A. Chamoles”, Buenos Aires, Argentina
(2): FESEN-Laboratorio de Neuroquimica “Dr. N. A. Chamoles”, Buenos Aires, Argentina
(3): FESEN-Laboratorio de Neuroquímica “Dr. N.A. Chamoles”, Buenos Aires, Argentina
P173 - Panorama of the Last Year of Operation of MSUD Network
Romariz Ferreira, F.(1); Tonon, T.(1); Hendges De Bitencourt, F.(1); Teixeira, A.(2); Sitta, A.(2); De Moura Coelho, D.(2); Batista, C.(2); Fischinger Moura De Souza,, C.(2); Vanessa Doederlein Schwartz, I.(1)
(1): Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
(2): Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil
P174 - Chitotriosidase: A Biomarker for the Diagnostic Approach of Lysosomal Storage Disorders
Uribe Ardila, A.(1); Pacheco, N.(2)
(1): Universidad de los Andes, Bogota, Colombia
(2): Universidad de los Andes
P175 - Spontaneous Subdural Hematoma in Mucopolysaccharidosis: Report of Five Cases and Literature Review
Dalla-corte, A.(1); Anjos Da Silva, A.(2); Fischinger M. De Souza, C.(2); Vanessa D. Schwartz, I.(1); Dain G. Horovitz, D.(3); Barth, A.(3); Giugliani, R.(1)
(1): Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
(2): Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil
(3): Instituto Fernandes Figueira—FIOCRUZ, Rio de Janeiro, Brazil
P176 - Neurocognition in Early Detected and Treated Congenital Hypothyroid Children
Pardo Campos, M.(1); Musso, M.(2); Keselman, A.(3); Bergadá, I.(4); Gruñeiro -papendieck, L.(3); Chiesa, A.(3)
(1): Fundacion de Endocrinologia Infantil. Universidad Catolica Argentina, CABA, Argentina
(2): CIPME (Conicet)-UADE, CABA, Argentina
(3): CEDIE-CONICET-FEI-División de Endocrinología, Hospital de Niños R. Gutiérrez, CABA, Argentina
(4): CEDIE-CONICET-FEI- División de Endocrinología, Hospital de Niños R. Gutiérrez, CABA, Argentina
P177 - Analysis of Foxe1 Gene in a Sample of Mexican Patients With Primary Congenital Hypothyroidism Due to Thyroid Dysgenesis
Alcántara-ortigoza, M.(1); Sánchez-verdiguel, I.(2); Martínez-cruz, V.(1); Sánchez-pérez, M.(3); González-del Angel, A.(1)
(1): 1Laboratorio de Biología Molecular, Departamento de Genética Humana, Instituto Nacional de Pediatria, México, Distrito Federal, México
(2): Consulta Externa de Pediatría, Instituto Nacional de Pediatria, México, Distrito Federal, México
(3): Laboratorio de Seguimiento del Neurodesarrollo, Instituto Nacional de Pediatria, México, Distrito Federal, México
P178) Variability of Thyroid Stimulating Hormone (TSH) Values in Newborn Dry Blood Samples According to Birth Weight and Maternal Body Mass Index in a Mexican Population
De La Torre García, O.(1); Trigo Madrid, M.(1); Ibarra Gonzalez, I.(2); Herrera Pérez, L.(3); Vela Amieva, M.(4)
(1): Secretaría de Marina Armada de México, Mexico D.F., México
(2): Instituto de Investigaciones Biomédicas, UNAM, Mexico D.F., México
(3): Laboratorio TamizMas de Químicos Maldonado, Villahermosa, Tabasco, México
(4): Laboratorio de Errores del Metabolismo y Tamiz del Instituto Nacional de Pediatría, México D.F., México
P179 - Mucopolysaccharidosis and Their Enzyme-Replacement Therapies. Long-Term Considerations
Guelbert, N.(1); Becerra, A.(1); Giner-ayala, A.(1); Peralta, L.(1); Guelbert, G.(1)
(1): Hospital de Niños de Cordoba, Cordoba, Argentina
P180 - Plasma Oxysterol Analysis for Niemann-Pick Type C Disease Diagnosis and Pre-Analytical Conditions
Giugliani, R.(1); Deon, M.(1); Mescka, C.(1); Ribas, G.(1); Souza, H.(1); Pereira, M.(1); Gus Kessler, R.(1); Timm Souza, F.(1); Freitas, T.(1); Pinto Vairo, F.(1); F M Souza, C.(1); R Vargas, C.(1)
(1): SGM/HCPA, Porto Alegre, Brazil
P181 - Investigation of Lysosomal Acid Lipase Deficiency: Experience of a Reference Center
Giugliani, R.(1); Scholz Magalhães, A.(2); De Mari, J.(2); Civallero, G.(2); Barbosa Trapp, F.(2); Michelin-tirelli, K.(2); Graeff Burin, M.(2)
(1): Hospital de Clínicas de Porto Alegre, Porto Alegre, Brasil
(2): Hospital de Clínicas de Porto Alegre
P182 - Epidemiological Behavior of the Screened Diseases in Costa Rica by the National Newborn Screening Program (NSP) 1990-2014
Chaves Guzmán, I.(1); Obando Rodríguez, S.(1); Jiménez Hérnandez, M.(2); Saborío Rocafort, M.(2)
(1): Asociación Costarricense para el Tamizaje (ASTA), San José, Costa Rica
(2): Programa Nacional de Tamizaje Neonatal, San José, Costa Rica
P183 - First Year After Congenital Adrenal Hyperplasia Neonatal Screening in a Public Health Program in Southern Brazil
Castro, S.(1); Prado, M.(2); Beltrão, L.(3); Chapper, M.(3); Vargas, P.(3); Dornelles, C.(4); Kopacek, C.(5)
(1): Serviço Referência Triagem Neonatal RS/UFRGS, Porto Alegre, Brasil
(2): Centro de Desenvolvimento Científico e Tecnológico (CDCT)—FEPPS/UFRGS, Porto Alegre, Brasil
(3): Serviço de Referência em Triagem Neonatal do Rio Grande do Sul, Porto Alegre, Brasil (4): Centro de Desenvolvimento Científico e Tecnológico (CDCT)—FEPPS, Porto Alegre, Brasil
(5): Serviço de Referência em Triagem Neonatal RS/UFRGS, Porto Alegre, Brasil
P184 - Extended Neonatal Screening In Indigenous Population of Mexico
Pérez Reyes, P.(1); Olvera Alvarez, J.(1); Ortíz Garcia, F.(1); Munguía Ramirez, M.(1)
(1): Mexican Institute of Social Security, IMSS PROSPERA Unit, México, D.F., Mexico
P185 - MPS Brazil Network: Over a Decade Improving Diagnosis of MPS
Federhen, A.(1); Burin, M.(1); Leistner-segal, S.(1); Matte, U.(1); Batista, C.(1); Rafaelli, C.(1); Giugliani, R.(1)
(1): Hospital de Clínicas de Porto Alegre, Porto Alegre, Brasil
P186 - Analysis of Signaling Pathways Associated With Liver Damage Using In-Vitro and In-Vivo Models of Niemann-Pick Disease
Oyarzún, J.(1); Acuña, M.(1); Castro, J.(1); Arrese, M.(1); Zanlungo, S.(1)
(1): Pontificia Universidad Católica de Chile, Santiago, Chile
P187 - Vitamin B12 Deficit in Infant of a Vegetarian Mother: Application of Tandem Mass Spectrometry and Gas Chromatography
Cesari, N.(1); Suldrup, N.(1); Naretto, A.(1)
(1): IACA Laboratorios, Bahia Blanca, Argentina
P188 - Implementation of the Newborn Screening Program at the Nicaraguan Social Security Institute: First Year Results
Del Río Fabre, L.(1); Álvarez Abreu, M.(2); Sequeira Gudiel, B.(3); Delgado Pérez, R.(3); Barrios Rocha, L.(3); Salazar Ortiz, Y.(2)
(1): Centro de Inmunoensayo, La Habana, Cuba
(2): Centro de Inmunoensayo, La Habana, Cuba
(3): Servicios Médicos Especializados (SERMESA), Managua
P189 - Newborn Screening for Cystic Fibrosis in Nuevo León, México
Torres Sepúlveda, M.(1); Martínez Garza, L.(1); Peña Cabrera, A.(1); López Uriarte, G.(1); Bustamante Saénz, A.(2); Villarreal Pérez, J.(3)
(1): Departamento de Genética UANL, Monterrey Nuevo León, México
(2): Centro de Prevención y Rehabilitación de Enfermedades Pulmonares CEPREP, Hospital Univesitario, México
(3): Servicios de Salud, Monterrey Nuevo León, México
P190 - High Birth Prevalence of Congenital Hypothyroidism and Geographical Variations of the Disease in the Mexican State of Tabasco
Herrera Pérez, L.(1); Moreno Graciano, C.(1); Martínez Cruz, P.(1); Arias Vidal, C.(1); Maldonado Solís, F.(1); Maldonado Solís, M.(1); Vela Amieva, M.(2); Ibarra González, I.(3); Chablé Cupil, G.(4)
(1): Tamizaje Plus S.A de C.V, Villahermosa, Tabasco, México
(2): Laboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, México, D.F., México
(3): Instituto de Investigaciones Médicas. UNAM, México, D.F., México
(4): Hospital del Niño Rodolfo Nieto Padrón, Villahermosa, Tabasco, México
P191 - Biochemical Findings of Beta-Ketothiolase T2-Deficiency in a Patient With Severe Neurological Involvement
Gomez Castro, J.(1); Echeverri Peña, O.(2); Ardila Gomez, Y.(3); Pulido Ochoa, N.(3); Guevara Morales, J.(2); Barrera Avellaneda, L.(4)
(1): Unidad Materno Infantil Fundacion Valle del Lili—Universidad ICESI—Universidad CES, Cali, Colombia
(2): Pontificia Universidad Javeriana—IEIM, Bogotá, Colombia
(3): Hospital Universitario San Ignacio—IEIM, Bogotá, Colombia
(4): Pontificia Universidad Javeriana- Hospital Universitario San Ignacio—IEIM, Bogotá, Colombia
P192 - Mucopolysaccharidosis Type VI, a Family Event Presentation
Miño Arango, M.(1); Forero Delgadillo, J.(1); Mondragón Gaviria, M.(1); Maya, J.(1)
(1): Universidad del Cauca, Popayan, Colombia
P193 - Inborn Errors of Metabolism and Pregnancy
Campo, K.(1); Castro, G.(1); Hamilton, V.(1); Bravo, P.(1); Arias, C.(1); Cabello, J.(1); Peredo, P.(1); Cornejo, V.(1)
(1): INTA, Universidad de Chile, Santiago, Chile
P194 - Mitochondrial DNA Depletion Syndrome Due to Thymidine Kinase 2 Mutation in Two Argentinian Patients
Loos, M.(1); Monges, S.(2); Lubieniecki, F.(2); Ruggieri, V.(2); Taratuto, A.(3); Hirano, M.(4); Arroyo, H.(5)
(1): Hospital de pediatría Prof Dr J P Garrahan, Buenos Aires, Argentina
(2): Hospital de Pediatria Prof Dr JP Garrahan, Buenos Aires, Argentina
(3): Instituto de investigaciones neurológicas FLENI, Buenos Aires, Argentina
(4): Houston Merritt Neuromuscular Research center. Columbia University., Nueva York, Estados Unidos de America
(5): Hospital de Pediatria Prof Dr JP Garrahan, Buenos Aires, Argentina
P195 - Retrospective Diagnosis of Lysosomal Acid Lipase Deficiency
Pacheco, M.(1); Filtrín, R.(1); Dlugoszewski, C.(1); Campos, E.(1); Rozenfeld, P.(2)
(1): Hospital Público Materno Infantil de Salta, Salta, Argentina
(2): DIEL/LISIN Universidad de La Plata, La Plata, Argentina
P196 - Hepatic Failure Associated With Type 1 Citrullinemia
Oliva, B.(1); Cabello, J.(1); Arriagada, P.(1); Zambrano, K.(1); Fierro, L.(1); Araya, G.(1); Novoa, F.(1)
(1): Universidad de Valparaiso, Viña Del Mar, Chile
P197 - The Use of Percentiles for Determination of Cut-Off Values in Newborn Screening Using Totally Automated System and Multiplex Assays
Sampaio Filho (jr), C.(1); Frias, F.(1); Veturiano, R.(1); Silva, V.(1); Bernardes, F.(1); Boalento, J.(1); Massi, A.(1); Lira, J.(1)
(1): INTERCIENTIFICA, S.J. Campos, Brasil
P198 - A Totally Automated System for Newborn Screening of PKU, GAL, and MSUD Using 384 Well Microplates
Sampaio Filho (jr), C.(1); Frias, F.(1); Veturiano, R.(1); Silva, V.(1); Bernardes, F.(1); Boalento, J.(1); Massi, A.(1); Lira, J.(1)
(1): INTERCIENTIFICA, S.J.Campos, Brasil
P199 - Congenital Hypothyroidism in a Provincial Newborn Screening Program
Albrekt, A.(1); Czubarko, L.(1); Klein, P.(1)
(1): Programa Provincial de Pesquisa Neonatal Misiones, Posadas, Argentina
P200 - Correlation Genotype/Phenotype in Hunter Syndrome in Two Unrelated Boys
Forero, L.(1); Beltran, O.(2); Ladino, Y.(3)
(1): Facultad de Medicina. Universidad Militar Nueva Granada, Bogota, Colombia
(2): Facultad de Medicina. Universidad Militar Nueva Granada. Fundación HOMI Hospital de la Misericordia, Bogota, Colombia
(3): Fundación HOMI Hospital de la Misericordia, Bogota, Colombia
P201 - Evidences of Lipid Metabolism Regulation by Sulfur Amino Acids in Classical Homocystinuria
Poloni, S.(1); Spritzer, P.(1); Hack Mendes, R.(1); Dalmeida, V.(2); Castro, K.(1); Sperb-ludwig, F.(1); Tucci, S.(3); Blom, H.(3); Doederlein Schwartz, I.(1)
(1): Universidade Federal do Rio Grande do Sul- UFRGS, Porto Alegre, Brazil
(2): Universidade Federal de São Paulo – UNIFESP, Porto Alegre, Brazil
(3): University Medical Center, Freiburg, Freiburg, Germany
P202 - Smith-Lemli-Opitz. Clinical Spectrum
Zabala, C.(1); Cabrera, A.(1); Castro, M.(1); Fernandez, L.(1); Bonaglia, R.(1); Lemes, A.(1);
(1): Instituto de Seguridad Social-BPS, Montevideo, Uruguay
P203 - Neonatal Screening Program Experience in the Public Health Laboratory Department of Magdalena, Colombia
Donado Barros, M.(1)
(1): Secretaria de Salud de Magdalena, Santa Marta, Colombia
P204 - Congenital Hypothyroidism Neonatal Screening Program: Ten-Year Experience in Guatemala
Lemus Arias, G.(1); Velasco, R.(1)
(1): Hospital Roosevelt, Guatemala, Guatemala
P205 - Fifteen Years of Continuous Monitoring of the Turnaround Times in Newborn Screening for Congenital Hypothyroidism
Maccallini, G.(1); Oneto, A.(1); Castillo, C.(1); Micenmacher, V.(1); Dure, A.(1); Hunt, M.(1); Stivel, M.(1); Fernandez Menteberry, V.(1); Chiesa, A.(1); Glikman, P.(1); Dratler, G.(1); Ropelato, G.(1); Muntaasbki, P.(1); Aranda, C.(1)
(1): Programa de Pesquisa Neonatal Gobierno de la Ciudad de Buenos Aires, Buenos Aires, Argentina
P206 - Biotinidase Deficiency in Brazil: A Clinical, Biochemical and Genetic Study
Borsatto, T.(1); Sperb-ludwig, F.(2); Lima, S.(3); Leistner-segal, S.(4); Pinto, L.(5); De Luca, G.(5); Carvalho, F.(5); De Medeiros, P.(6); Camelo, J.(7); De Souza, C.(4); Lourenço, C.(7); Ribeiro, E.(8); Felix, T.(4); Bittar, C.(4); Bernardi, P.(9); Silva, R.(10); Filho, R.(11); Neto, E.(12); Schwartz, I.(13)
(1): Brain laboratory-HCPA, PPGBM-Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
(2): Brain laboratory-HCPA, PPGCM-Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
(3): Brain laboratory-HCPA, Centro Universitário Ritter dos Reis, Porto Alegre, Brazil
(4): Medical Genetics Service-Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil
(5): Hospital Infantil Joana de Gusmão, Florianópolis, Brazil
(6): Universidade Federal de Campina Grande, Campina Grande, Brazil
(7): Hospital das Clínicas de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, Brazil
(8): Hospital Infantil Albert Sabin, Fortaleza, Brazil
(9): Hospital Universitário-Universidade Federal de Santa Catarina, Florianópolis, Brazil
(10): Universidade do Estado do Rio de Janeiro, Rio de Janeiro, Brazil
(11): Universidade Estadual de Ciências da Saúde de Alagoas, Maceió, Brazil
(12): CTN Diagnósticos, Porto Alegre, Brazil
(13): Universidade Federal do Rio Grande do Sul, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil
P207 - Advances in IEM Diagnosis During the Last 7 Years: Overview From a Biochemical Diagnosis Reference Center
Guevara Morales, J.(1); Echeverri Peña, O.(2); Pulido Ochoa, N.(3); Ardila Gomez, Y.(3); Espinosa, E.(4); Barrera Avellaneda, L.(5)
(1): Pontificia Universidad Javeriana—IEIM, Bogotá, Colombia
(2): Pontificia Universidad Javeriana, Bogotá, Colombia
(3): Hospital Universitario San Ignacio—IEIM, Bogotá, Colombia
(4): Instituto de ortopedia Infantil Roosevelt, Bogotá, Colombia
(5): Pontificia Universidad Javeriana- Hospital Universitario San Ignacio—IEIM, Bogotá, Colombia
P208 - Congenital Metabolism Diseases of Neurotransmitters in Pediatric Neurology: Clinical Description and Neurological Tracing of a Group of Patients
Troncoso, M.(1); Santander, P.(1); Micolich Espejo, V.(1); Rojas, C.(1); Guzmán, G.(1); Wicki, A.(1); Leon, D.(1); Troncoso, L.(1)
(1): Servicio Neurología Infantil Hospital San Borja Arriarán, Universidad de Chile Campus centro, Santiago, Chile
P209 - Lower TSH Cutoff Level for Congenital Hypothyroidism Neonatal Screening: Pilot Experience in the Buenos Aires City Neonatal Screening Program (PPN)
Vieites, A.(1); Enacan, R.(1); Gotta, G.(1); Ropelato, G.(1); Junco, M.(1); Maccallini, G.(1); Dratler, G.(1); Rodriguez, E.(1); Glikman, P.(1); Onetto, A.(1); Odriozola, A.(1); Marino, S.(1); Micenmacher, V.(1); Dure, A.(1); Muntaabski, P.(1); Aranda, C.(1); Chiesa, A.(2)
(1): Rograma de Pesquisa Neonatal Gobierno de la Ciudad de Buenos Aires, CABA, Argentina
(2): Programa de Pesquisa Neonatal Gobierno de la Ciudad de Buenos Aires, CABA, Argentina
P210 - Incidence of Congenital Hypothyroidism Remains Constant in Chile
Grob, F.(1); Carrillo, D.(1); Viviani, P.(1); Torres, C.(2); Lobo, G.(3); Opazo, M.(2); Bruggendieck, B.(3); Vega, R.(2); Valdebenito, S.(3); Concha, C.(2)
(1): Pontificia Universidad Católica de Chile, Santiago, Chile
(2): Hospital Guillermo Grant Benavente, Concepción, Chile
(3): Hospital San Juan de Dios, Santiago, Chile
P211 - Twelve Years of Neonatal Screening Program for Congenital Hypothyroidism
Zumaeta Beramendi, R.(1); Davila Aliaga, C.(1); Lujan Lujan, C.(1); Santiago, G.(1); Palomino Ochoa, C.(1); Larrabure Torrealva, G.(1)
(1): Instituto Nacional Materno Perinatal, Lima, Peru
P212 - Extrapyramidal Symptoms in Patients With Inborn Errors of Metabolism
Hidalgo, M.(1); Muñoz Chesta, D.(1); Cardenas Galli, J.(2); Troncoso, M.(1); Santander, P.(1); Fariña, G.(1); Lara, S.(1); Peña, C.(1)
(1): Hospital San Borja Arriaran, Santiago, Chile
(2): Hospital San Borja Arriaran, Santiago, Chile
P213 - White Matter Disorders in a Serie of 150 Patients With Metabolic Disease
Santander, P.(1); Troncoso, M.(1); Mendoza, A.(1); Jaque, C.(1); Witting, S.(1); Troncoso, L.(1); Rojas, C.(1); Lopez, C.(1); Barrios, A.(1); Guzman, G.(1); Faroña, G.(1); Zamora, J.(1); Guerra, P.(1); Díaz, C.(1)
(1): Servicio Neurología Infantil, Hospital San Borja Arriaran—Fac.Medicina Campus Centro U. Chile, Santiago, Chile
P214 - Mitochondrial DNA Disease: Clinical Spectrum From the Genotype to the Phenotype
Santander, P.(1); Troncoso, M.(1); Mateluna, C.(1); Barrios, A.(1); Guerra, P.(1); Flandes, A.(1); Díaz, R.(1); Troncoso, L.(1); Millan, F.(1)
(1): Servicio Neuropsiquiatría Infantil Hospital Clínico San Borja Arriarán, Santiago, Chile
P215 - 15 Years of Experience of Neonatal Screening Program in Mendoza-Argentina
Villarías, N.(1); Guercio, A.(1); Lobato, V.(1); Castro, B.(1); Bassino, S.(1); Carminati, N.(1); Ayub, E.(1); Verdaguer, L.(1); Pereyra, M.(2); Valle, S.(1)
(1): Programa Pesquisa Neonatal-CEPEII. Hospital Pediátrico Dr. Humberto Notti, Mendoza, Argentina
(2): Crecimiento y Desarrollo.Hospital Pediátrico Dr. Humberto Notti, Mendoza, Argentina
P216 - Implementation of Screening Program to Detect Endocrine and Metabolic Diseases in the Province of Salta, Argentina
Pacheco, M.(1); Pasteris, E.(1); Gómez, M.(1); Morales, M.(1); Morales, A.(1); Del Carril, A.(1); Nader, J.(1); Filtrin, R.(1)
(1): Hospital Público Materno Infantil de Salta, Salta, Argentina
P217 - Strategy for the Implementation of a Neonatal Screening Program in a Municipality of Bolivia With S.U.M.A. Technology
Hidalgo Ugarte, L.(1)
(1): Ministerio de Salud, La Paz, Bolivia
P218 - Diet Therapy and Perception of Parent/Caregiver of Individuals With Phenylketonuria, With and Without Autism, Accompanied the Reference Service in Newborn Screening
Regina Gomes De Queiroz, I.(1); Santos Calmon, L.(2); Efigenia De Queiroz Leite, M.(2); Pereira Pondé, M.(3); Da Anunciação Do Espírito Santo, D.(2);
(1): APAE/EBMSP, Salvador, Brasil
(2): APAE/UFBA, Salvador, Brasil
(3): EBMSP, Salvador, Brasil
P219 - 10 Years of Neonatal Screening Experience for Congenital Hypothyroidism Using the Suma Technology in Arauca, Colombia
Robinson Hidalgo, A.(1)
(1): Unidad Administrativa Especial de Salud de Arauca, Arauca, Colombia
P220 - Newborn Screening for Pompe Disease: Trying to Reach an Earlier Diagnosis
Sokn, S.(1); Frabasil, J.(2); Durand, C.(2); Bambara, C.(2); Naymark, L.(2); Gaggiolli, D.(2); Carozza, P.(2); Schenone, A.(2)
(1): FESEN-Laboratorio de Neuroquimica, Buenos Aires, Argentina
(2): FESEN-Laboratorio de Neuroquimica
(O-2.1) Oral Communications II—NBS
O09 - Obtention of Low Phenylalanine Whole Blood for Preparation of Reference Materials and Calibrators for Newborn Screening Using Phenylalanine Ammonia Lyase
Borrajo, G.(1); Castañeda, M.(2); Hours, R.(2)
(1): Detección de Errores Congénitos. Fundación Bioquímica Argentina, La Plata, Argentina
(2): CINDEFI. Facultad de Ciencias Exactas. Universidad Nacional de La Plata, La Plata, Argentina
O10 - Initial Experience of Newborn Screening for Medium Chain Acyl Co-A Dehydrogenase Deficiency (MCADD)
Maccallini, G.(1); Castillo, C.(1); Junco, M.(1); Hunt, M.(1); Oneto, A.(1); Smithuis, F.(1); Eiroa, H.(1); Chiesa, A.(1); Muntaabski, P.(1); Aranda, C.(1)
(1): Programa de Pesquisa Neonatal Gobierno de la Ciudad de Buenos Aires, Buenos Aires, Argentina
O11 - Benefits of Second-Tier Confirmation of Newborn Metabolic Screening Using Targeted Next Generation Sequencing in Latin America
Naylor, E.(1); Sololsky, T.(2); Rousseau, R.(2); Maldonado, F.(3); Vela-amieva, M.(4); Cabello, J.(5); Bhattacharjee, F.(2)
(1): Medial University of South Carolina, Charleston, USA
(2): Parabase Genomics, Inc., Boston, USA
(3): Quimicos Maldonado, Villa Hermosa, Mexico
(4): Instituto Nacional de Pediatría, Mexico
(5): INTA Universidad de Chile, Santiago, Chile
Second-tier DNA molecular analysis has become routine for confirmation of newborn screening results in some programs for sickle cell disease, MCAD deficiency, and cystic fibrosis by identification of common mutations in the original dried blood specimen (DBS). We have developed a targeted Next Generation Sequencing (tNGS) second-tier newborn metabolic screening panel consisting of 126 genes corresponding to the metabolic disorders currently recommended for inclusion in population based screening programs. The method starts with DBS used in screening and DNA extracted from the DBS which is subjected sequencing of regions representing entire coding exons, intron boundaries, and non-exonic mutation containing regions using Ilumina Hi-Seq 2500 instrument. For targeting, am enrichment technology is used in which tens of thousands of probes were utilize to hybridize and capture genomic DNA regions of interest. tNGS using a focused set of 126 genes has advantages over whole genome or whole exon sequencing including lower cost, greater accuracy, shorter turnaround time, and less complex data interpretation and fewer incidental findings. The reliability of this approach is illustrated using sample from patients, including patients from Mexico and Chile, with a variety of such disorders illustrating the benefits of tNGS. The newborn samples were isovaleric academia patients from Mexico City; a maple syrup urine disease patient and a suspected cystic fibrosis patient from Villahermosa, Mexico; and a patient with suspected VLCAD deficiency from Chile. These patients illustrate the clear benefits of the second-tier tNGS panel by resolving potential incorrect diagnoses and providing information on the patient’s prognosis. This approach also has the potential to improve the sensitivity and specificity of existing newborn metabolic screening programs. A single tNGS test is relatively simple and straight forward while traditional Sanger sequencing may require running various protocols. It also lays the foundation for future primary DNA based molecular newborn screening for metabolic disorders.
O12 - Molecular Characterization of Galt Gene in Argentinean Patients With Decreased Galactose-1-Phosphate Uridyltransferase Activity
Crespo, C.(1); Eiroa, H.(1); Otegui, M.(1); Chertkoff, L.(1); Gravina, L.(1)
(1): Hospital de Pediatría “Prof. Dr. Juan P. Garrahan,” Ciudad Autónoma de Buenos Aires, Argentina
O13 - 25 Years of Experience on Newborn Screening for Phenylketonuria in Costa Rica: Identification of the Most Common Mutations in the Phenylalanine Hydroxylase (PAH) Gene
Camacho, N.(1); Reuben, A.(1); Alvarado, D.(1); Arroyo, J.(1); Jiménez, M.(1); Saborío, M.(2)
(1): Laboratorio Nacional de Tamizaje Neonatal y Alto Riesgo, San José, Costa Rica
(2): Servicio de Genética Médica y Metabolismo, Hospital Nacional de Niños, San José, Costa Rica
O14 - Development of First and Second Tier Newborn Screening Assays for Spinal Muscular Atrophy
Taylor, J.(1); Lee, F.(2); Yazdanpanah, G.(2); Staropoli, J.(3); Liu, M.(3); Caruilli, J.(3); Sun, C.(3); Hannon, H.(4); Vogt, R.(2)
(1): RTI International, Research Triangle Park, United States
(2): CDC, Atlanta, United States
(3): Biogen Idec, Boston, United States
(4): CDC Foundation, Atlanta, United States
O-2.2 - Oral Communications II—EIM
O15 - Classical Homocystinuria: A Comprehensive Study in Brazil
Poloni, S.(1); Borsatto, T.(1); Weber, G.(1); Doriqui, M.(2); Lourenço, C.(3); Kim, C.(4); Souza, C.(5); Rocha, H.(6); Ribeiro, M.(6); Fonseca, G.(6); Valladares, E.(7); Bernardi, P.(8); Artigalas, O.(1); Carvalho, G.(9); Steiner, C.(10); Moreno, C.(10); Wanderley, H.(11); Boa Sorte, N.(12); Kyosen, S.(13); Martins, A.(13); Dalmeida, V.(13); Blom, H.(14); Giugliani, R.(1); Doederlein Schwartz, I.(15);
(1): Genetics Department, Federal University of Rio Grande do Sul, Porto Alegre, Brazil
(2): Complexo Hospitalar Materno-Infantil do Maranhão, São Luiz, Brazil
(3): Hospital das Clínicas de Ribeirão Preto, Ribeirão Preto, Brazil
(4): Universidade de São Paulo, São Paulo, Brazil
(5): Genetics Department, Federal University of Rio Grande do Sul, Brazil, Porto Alegre, Brasil
(6): Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil
(7): Universidade Federal de Minas Gerais, Belo Horizonte, Brazil
(8): Universidade Federal de Santa Catarina, Florianópolis, Brazil
(9): Hospital de Apoio de Brasília, Brasilia, Brazil
(10): Universidade Estadual de Campinas, Campinas, Brazil
(11): Hospital Infantil Nossa Senhora da Glória, Vitoria, Brazil
(12): Universidade do Estado da Bahia, Salvador, Brazil
(13): Universidade Federal de São Paulo, São Paulo, Brazil
(14): University of Freiburg, Freiburg, Germany
(15): Genetics Department, Federal University of Rio Grande do Sul, de do Sul, BrazilPorto Alegre, Brazil
O16 - Ethylmalonic Encephalopathy (EE). Clinical, Biochemical and Imaging Data in Six Patients and the Importance of Urine Thiosulfates in the Diagnosis
Durand, C.(1); Velasquez Rivas, D.(1); Maccarone, M.(1); Sokn, S.(1); Tommasi, F.(1); Fuertes, A.(1); Marchione, M.(1); Szlago, M.(2); Abdenur, J.(3); Schenone, A.(1)
(1): FESEN-Laboratorio de Neuroquimica, Buenos Aires, Argentina
(2): Enf. Metabólicas. Servicio de Genética-Hospital de Niños Ricardo Gutierrez., Buenos Aires, Argentina
(3): CHOC Children´s, Orange, USA
O17 - In Vitro Uptake and Kinetic Characterization of Recombinant Human Beta-Hexosaminidases
Espejo Mojica, A.(1); Ramírez, A.(2); Beltrán, L.(1); Rodríguez López, A.(1); Díaz, D.(1); Mosquera, A.(1); Alméciga Díaz, C.(1); Barrera, L.(1)
(1): Insituto de Errores Innatos del Metabolismo; Pontificia Universidad Javeriana, Bogota, Colombia
(2): Insituto de Errores Innatos del Metabolismo; Pontificia Universidad JaverianaInsituto de Errores Inn, Bogota, Colombia
O18 - Intracranial Hypertension in Mucopolysaccharidosis Patients: What Should we Take Into Account?
Dalla-corte, A.(1); Fischinger M. De Souza, C.(2); Vairo, F.(2); Anés, M.(2); Modesti Vedolin, L.(2); Moraes Ferreira, M.(2); Graciana P. Perrone, S.(2); Di S. D’andréa, L.(2); Giugliani, R.(1)
(1): Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
(2): Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil
O19 - Neurocognitive Functioning in Patients Tyrosinemia Type 1 Under NTBC and Nutritional Management
Arias, C.(1); Garcia, M.(1); De La Parra, A.(1); Hamilton, V.(1); Campo, K.(1); Castro, G.(1); Bravo, P.(1); Cabello, J.(1); Peredo, P.(1); Raimann, E.(1); Valiente, A.(1); Fuenzalida, K.(1); Cornejo, V.(1)
(1): Instituto de Nutrición y Tecnología de los alimentos, Santiago, Chile
O20 - Urea Cycle Disorders: Previous and Novel Genetic Findings in Argentine Patients
Silvera-ruiz, S.(1); Angaroni, C.(1); Arranz, J.(2); Häberle, J.(3); Dodelson De Kremer, R.(1); Laróvere, L.(1)
(1): CEMECO, Hospital de Niños de Córdoba, Clínica Pediátrica, Fac. Cs. Médicas, UNC, Córdoba, Argentina
(2): Unitat Metab, Hospital Vall d´Hebron, Barcelona, Spain
(3): University Children’s Hospital and Children’s Research Center, Zurich, Switzerland
Urea cycle disorders (UCD) are inborn errors of ammonia detoxification/arginine synthesis due to defects of five core enzymes, one activating enzyme and one mitochondrial ornithine/citrulline antiporter. The onset and severity of UCD is highly variable; this depends on the specific mutation involved and correlates with the amount of urea cycle enzyme function. These disorders are transmitted as autosomal recessive genes, except ornithine transcarbamylase deficiency (OTC), which is transmitted as an X-linked trait. In some cases OTC disorders occur as a result of spontaneous mutation in a developing fetus.
INDEX BY ABSTRACTS
10 Years of Neonatal Screening Experience for Congenital Hypothyroidism Using the Suma Technology in Arauca, Colombia........104
15 Years of Experience of Neonatal Screening Program in Mendoza-Argentina........103
22 Years of Experience in Newborn Screening for Congenital Hypothyroidism........82
25 Years of Experience on Newborn Screening for Phenylketonuria in Costa Rica: Identification of the Most Common Mutations in the Phenylalanine Hydroxylase (PAH) Gene........107
A 3-Month-Old Boy Presenting With Fulminant Hepatic Failure and Mitochondrial Depletion Syndrome With a Homozygous Missense Variant in the POLG2 Gene........71
A New Mutation in the Intron of the IDS Gene in an Adult Patient with Mucopolysaccharidosis Type II........63
A Patient With OTC Deficiency That Also Has a Mutation on CPT2 Gen........27
A Study on the Effects of Interrupting Enzyme Replacement Therapy on a Lysosomal Storage Disorder........20
A Totally Automated System for Newborn Screening of PKU, GAL, and MSUD Using 384 Well Microplates........96
Advances in IEM Diagnosis During the Last 7 Years: Overview From a Biochemical Diagnosis Reference Center........99
Advances to Improve Scientific Knowledge and Practice on Rare Diseases Into Higher Education in Latin America........34
An Unusual Sight of the Epilepsy: ATP1A3 Mutations........69
Analysis of Allelic Variant R347P of Exon 7 of the Gene CFTR in Patients Diagnosed With Cystic Fibrosis........25
Analysis of Foxe1 Gene in a Sample of Mexican Patients With Primary Congenital Hypothyroidism Due to Thyroid Dysgenesis........87
Analysis of Signaling Pathways Associated With Liver Damage Using In-Vitro and In-Vivo Models of Niemann-Pick Disease........91
Anesthesia for MRI and Diagnostic Tests in Mucopolysaccharidosis Patients........60
Anthropometric Assessment in Children and Adolescents With Classical Phenylketonuria........44
Anthropometric State Evaluation of Children Diagnosed With Maple Syrup Urine Disease (MSUD) Attended in a Reference Service in Newborn Screening in Salvador, Bahia, Brazil........46
Atypical Nonketotic Hyperglycinemia by Dysfunction of T Protein of Glycine Cleavage System........68
Benefits of Second-Tier Confirmation of Newborn Metabolic Screening Using Targeted Next Generation Sequencing in Latin America........106
BH4 Loading Test for Evaluation of Neonatal Hyperphenylalaninemia........42
Biochemical and Genetic Diagnosis in Congenital Disorders of Glycosylation........24
Biochemical and Genetic Screening in ATP6V0A2-CDG Patients........25
Biochemical Diagnosis of Non-Ketotic Hyperglycinemia in Cuba........10
Biochemical Findings of Beta-Ketothiolase T2-Deficiency in a Patient With Severe Neurological Involvement........93
Biotinidase Deficiency in Brazil: A Clinical, Biochemical and Genetic Study........99
Biotinidase Deficiency Newborn Screening Experience in México: Epidemiological Overview........53
BONE Mineral Density in Children With Maple Syrup Urine Disease (MSUD)........13
Can the Same Platform of Tandem Mass Spectrometry on Newborn Screening of Amino Acid and acylcarnitine be Used for Investigation of Symptomatic Patients? A 4-Year Experience........66
Cerebellar Hypometabolism and Cognitive Deficits in Erdheim Chester Disease: Just Accumulation of Histiocytes or Secondary Metabolic/Endocrine Deficits?........77
Child Mortality in Brazil: An Epidemiological Study on Inborn Metabolic Disorders of Intermediary Metabolism........81
Chitotriosidase: A Biomarker for the Diagnostic Approach of Lysosomal Storage Disorders........86
Classical Homocystinuria: A Comprehensive Study in Brazil........108
Clinical and Laboratory Characterization of Patients With Maple Syrup Urine Disease Followed in a Reference Service for Newborn Screening in Salvador, Bahia, Brazil........46
Clinical, Biochemical and Molecular Characterization of an Argentinean Patient With Niemann Pick Type B Disease........30
Cobalamine C Deficiency. A Case Detected by Newborn Screening........16
Cognitive Assessment and Stimulation in Patients With Glutaric Acidemia Type 1, With Severe Neurological Impairment, by Using Technological Platform Games........17
Comparison Analysis of Gene and Exome Sequencing Technology for diagnosis of MPS Complex Disease in a Group of Patients From Southwestern Region of Colombia........55
Comparison of Taliglucerase Alfa 30 U/kg and 60 U/kg in Treatment-Naive Pediatric Patients With Gaucher Disease........55
Confirmatory Diagnosis OF Biotinidase Deficiency in the National Centre of Medical Genetics: 2006-2013........28
Congenital CLN8 Neuronal Ceroid Lipofuscinosis Disease: A New Phenotype........51
Congenital Hypothyroidism in a Provincial Newborn Screening Program........96
Congenital Hypothyroidism Neonatal Screening Program: Ten-Year Experience in Guatemala........98
Congenital Hypothyroidism. Progression of the Neonatal Screening Program in the Department of La Paz, Bolivia........14
Congenital Metabolism Diseases of Neurotransmitters in Pediatric Neurology: Clinical Description and Neurological Tracing of a Group of Patients........100
Continuous Improvement in the Newborn Screening Program of the State of Rio De Janeiro, Brazil........37
Correlation Genotype/Phenotype in Hunter Syndrome in Two Unrelated Boys........96
Creatine Kinase Muscle Isozyme Immunoassay for the Newborn Screening of Duchenne Muscular Dystrophy........11
Cuban National Newborn Screening Program for Congenital Adrenal Hyperplasia From 2005-2014: A Reality........37
Cystic Fibrosis Birth Prevalence Diagnosed by Expanded Neonatal Screening in Yucatan, Mexico........47
Cystic Fibrosis: Diagnosis on Newborn Screening in Espirito Santo State, Brazil........63
Cystic Fibrosis: Experience of the Newborn Screening Program of Costa Rica (2009-2015)........26
Description of 11 Cases of Neuronalceroid Lipofuscinosis........60
Description of Nutritional Deficiencies in Children With Maple Syrup Disease (MSUD) in Dietary Treatment Attended in Reference Service of Newborn Screening in Salvador, Bahia, Brazil........47
Determination of Genotypic and Clinical Characteristics of Colombian Patients With Morquio A Syndrome........49
Development of a New 17OH Progesterone Neonatal Umelisa Using Monoclonal Antibodies on the Solid Phase........22
Development of First and Second Tier Newborn Screening Assays for Spinal Muscular Atrophy........107
Diagnosis, Management and Follow Up of Patients With Maple Syrup Urine Disease: Report of a Case........68
Diagnosis of Lysosomal Storage Diseases in Cuba: Period 2013-2015........52
Diet Therapy and Perception of Parent / Caregiver of Individuals With Phenylketonuria, With and Without Autism, Accompanied the Reference Service in Newborn Screening........104
Differences in Oxidative Stress Parameters Between Mucopolysaccharidoses I and VI........53
Distribution of 17OH-Progesterone Values by Birth Weight, Gestational Age and Sex in a Population of Mexican Newborns........50
Distribution of the C.60+5G>T Danish Pathogenic Variant of PAH Gene Among Latin American PKU Patients and Phenotype Description of Resulting Homozygous State........14
Endocrinopathies Detected by Newborn Screening: Epidemiological Overview........43
Energy Expenditure in Children With Maple Syrup Urine Disease (MSUD)........44
Enzymatic Diagnosis of Mucopolysaccharidosis IVA in Chile........58
Epidemiological Behavior of the Screened Diseases in Costa Rica by the National Newborn Screening Program (NSP) 1990-2014........89
Epigenetic Alterations in Niemann-Pick Type C Models: Neuronal Gene Repression Mediated by the C-ABL/HDAC2 Pathway........38
Epilepsy Associated to Inborn Errors of Metabolism, Study, and Evolution of 68 Patients........79
Ethylmalonic Encephalopathy (EE). Clinical, Biochemical and Imaging Data in Six Patients and the Importance of Urine Thiosulfates in the Diagnosis........109
Etiology and Evolution in Newborns With Congenital Hypothyroidism and Mildly Elevated TSH Screening Cut-Off........36
Evaluation of a New Algorithm for Cystic Fibrosis in Neonatal Screening........42
Evaluation of DNA Extraction Method and 11 Most-Common Mutations in the CYP21A2 Gene From Neonatal Dried Blood Spots Samples as a Confirmatory Method in Neonatal Screening (NS)........13
Evaluation of Homocysteine Levels in Cuban Patients With Homocystinuria and Methylmalonic Aciduria........15
Evaluation of Long-Term Stability of Lysosomal Enzyme Activities in Dried Blood Spots in Different Storage Conditions........85
Evaluation Of Neolisa® MSUD Kit in Maple Syrup Urine Disease Child Monitoring in a Reference Service for Newborn Screening........14
Evaluation of Quality Indicators of a National Newborn Screening Program........54
Evaluation of the Influence of Collecting Newborn Screening Samples Using Two Different Filter Papers During the Same Time Period........57
Evidences of Lipid Metabolism Regulation by Sulfur Amino Acids in Classical Homocystinuria........97
Expanded Newborn Screening Experience in the Health Services of the Mexican Army........33
Expanded Newborn Screening Program in One Center in Santiago De Chile: 8 Year Experience and Challenges........39
Experience in Management of a Patient With Ethylmalonic Encephalopathy........70
Experience With Sapropterin Treatment in PKU Patients........12
Experiences for More Than 20 Years in the Nutritional Management of Patients Diagnosed With Galactosemia........76
Extended Neonatal Screening In Indigenous Population of Mexico........90
External Quality Assessment for the Detection of Phenylketonuria: Results of the Buenos Aires Programme........47
External Quality Assurance Program for Neonatal Screening (PEEC-PN): A 15-Year Trajectory........56
Extrapyramidal Symptoms in Patients With Inborn Errors of Metabolism........102
Fifteen Years of Continuous Monitoring of the Turnaround Times in Newborn Screening for Congenital Hypothyroidism........98
First Year After Congenital Adrenal Hyperplasia Neonatal Screening in a Public Health Program in Southern Brazil........89
First Year of Metabolic Control Guidelines and its Impact on Future Metabolic Control and Cognitive Performance in Children Affected With PKU........43
Frequency Analysis of the N370S and L444P Mutations in Gaucher Disease Patients From Pará-Northern Brazil........18
Fundación De Endocrinología Infantil (FEI): 30 Years of Experience in Newborn Screening........33
Galactosemia and Pregnancy Report of a Case........26
Galactosemia Due to Galactokinase Deficiency: Report of a New Mutation in a Mexican Patient........66
Gastrostomy Improves Chronic–Acute Malnutrition in Patients With Inborn Errors of Metabolism........75
Genotype Analysis OF Phenylketonuria in Chile........13
Glucose-6-Phosphate Dehydrogenase Deficiency: Three Years Experience in Neonatal Screening Program and its Incidence in Federal District, Brazil........48
Glutaric Aciduria Type I (GA1), Clinical Characterization and Genetic Study of 11 Chilean Children........17
Glycogen Storage Disease Type III (GSDIII): Clinical Characterization of a Group of Chilean Patients........80
Groups of Health Education in Ceaps: An Accession Strategy to Youth Treatment With Phenylketonuria........79
Hepatic Failure Associated With Type 1 Citrullinemia........95
Hereditary Fructose Intolerance: Clinical Diagnosis in Patient With One Novel Missense Mutation in the Aldolase B Gene........29
High Birth Prevalence of Congenital Hypothyroidism and Geographical Variations of the Disease in the Mexican State of Tabasco........92
Homocystinuric Patients With Cystathionine Beta-Synthase (CBS) Deficiency. Study of Genotype-Phenotype Correlation: 15 Years’ Experience in Cemeco, Argentina........76
HPLC For Confirmatory Diagnosis and Biochemical Monitoring of Cuban Patients With Hyperphenylalaninemias........27
Hyperactivity: A Nearly Feature of Homocystinuria, Case Report........31
Hypercalciuric Normocalcemia and Mild Hypoparathyroidism With Pathologic Fracture in a Child: Suspected Dysfunction CASR?........32
Hyperornithinemia: Diagnostics and Nutritional Food Handling on the First Case Reported in Cuba........66
Hyperphenylalaninemia and BH4 Deficiency: Two Case Reports........69
Identification of Modifiable Epitopes for the ARSB Enzyme by a Computational Approach........39
Identification of Recombinant Alleles in GBA1 Gene in Patients With Neuronopathic and Non-Neuronopathic Gaucher Disease........52
Identification of the Genetic Mutations of a Group of Chilean Patients With Mucopolysaccharidosis Type II Diagnostics........60
Impact on Pre- and Post-Analytical Factors After Implementation of a Newborn Screening Program........56
Implementation of Screening Program to Detect Endocrine and Metabolic Diseases in the Province of Salta, Argentina........103
Implementation of the Newborn Screening Program at the Nicaraguan Social Security Institute: First Year Results........91
Importance of Individualized Nutritional Calculation in Nephropathic Cystinosis: Comparison of Two Cases........10
In Vitro Uptake and Kinetic Characterization of Recombinant Human Beta-Hexosaminidases........109
Inborn Errors of Metabolism and Pregnancy........93
Incidence of Congenital Hypothyroidism Remains Constant in Chile........101
Incidence of Cystic Fibrosis: A Decreasing Trend Throughout the Years........81
Incidence of Phenylketonuria in the Peruvian Social Security Institute Detected by Newborn Screening During 2012-2014........30
Initial Experience of Newborn Screening for Medium Chain Acyl Co-A Dehydrogenase Deficiency (MCADD)........106
Intracranial Hypertension in Mucopolysaccharidosis Patients: What Should we Take Into Account?........110
Investigation of Inborn Errors of Metabolism (IEM) in Cartagena de Indias, Colombia: Experience of 13 Years........74
Investigation of Lysosomal Acid Lipase Deficiency: Experience of a Reference Center........89
Is Alfa 1 Antitrypsin Heterozygosity A Phenotype Modifier for Glycogen Storage Disorders?........78
Liver Transplant in Niemann Pick B (NPB): Report of 3 Cases........57
Long-Term Safety and Efficacy of Taliglucerase Alfa in Pediatric Patients With Gaucher Disease Who Were Treatment-Naive or Previously Treated With Imiglucerase........55
Lower TSH Cutoff Level for Congenital Hypothyroidism Neonatal Screening: Pilot Experience in the Buenos Aires City Neonatal Screening Program (PPN)........100
Lysinuric Protein Intolerance and Liver Transplantation: A Case Description........27
Lysinuric Protein Intolerance (LPI), Report of 2 New Cases........70
Lysosomal Acid Lipase in Dried Blood Spots (DBS) in Argentinean Population........84
Magnetic Resonance Patterns in Children With Adrenoleukodystrophy........73
Maternal Phenylketonuria: A Preventable Cause of Microcephaly........48
Membrane Protein Carbonylation Patterns of Human Erythrocytes in G6PD-Deficient And HBS Patients........74
Metal Inborn Errors of Metabolism (MIEM): Clinical, Laboratory, and Radiological Features........80
Methylmalonic Acid (MMA), One Metabolite-Several Diseases........73
Methylmalonic Acidemia........65
Mitochondrial Diseases Series of Case Reports........32
Mitochondrial DNA Depletion Syndrome Due to Thymidine Kinase 2 Mutation in Two Argentinian Patients........94
Mitochondrial DNA Disease: Clinical Spectrum From the Genotype to the Phenotype........102
Mitochondrial Myopathy: TK2 Gene Depletion Syndrome........11
Molecular Analysis for Galactosemia Was Implemented in the Neonatal Screening Program of the Province of Santa Fe, Argentina........42
Molecular Characterization of Galt Gene in Argentinean Patients With Decreased Galactose-1-Phosphate Uridyltransferase Activity........107
Molecular Characterization of Patients With Mucopolysaccharidosis IVA in south Western Colombia........62
Molecular Characterization of Phenylketonurics in Uruguay........30
Molecular Study of Phenylketonuria in Cuba: 2007-2013........54
Monitoring of Congenital Hypothyroidism in Tucuman, Argentina’s Neonatal Screening Program........81
MPS Brazil Network: Over a Decade Improving Diagnosis of MPS........90
Mucopolysaccharidosis and Their Enzyme-Replacement Therapies. Long-Term Considerations........88
Mucopolysaccharidosis Type VI, a Family Event Presentation........93
Multiplex Analysis Using a Totally Automated System for Newborn Screening of Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, and Cystic Fibrosis in the Northeast of Brazil........9
Neonatal Screening for Hemoglobinopathies in Mexico: An Analysis of 277,760 Newborns........64
Neonatal Screening of Persistent Hyperphenylalaninemia: Strategies and Cut-Off Values........16
Neonatal Screening Program Experience in the Public Health Laboratory Department of Magdalena, Colombia........98
Neonatal Screening Program for Central Congenital Hypothyroidism........36
Neonatal Screening Program (NSP) in Zulia—Venezuela: Evaluation of Twelve Years of Experience........18
Neuroclinical and Neuroradiological Aspects of Mucopolysaccharidosis Type II Patients Following at Centro De Referencia Em Erros Inatos do Metabolismo (CREIM) of Universidade Federal De Sao Paulo (UNIFESP)........62
Neurocognition in Early Detected and Treated Congenital Hypothyroid Children........86
Neurocognitive Functioning in Patients Tyrosinemia Type 1 Under NTBC and Nutritional Management........110
Neuronal Ceroid Lipofuscinosis-2 (CLN2) Disease, a Type of Batten Disease Caused by TPP1 Enzyme Deficiency: Current Knowledge of the Natural History From International Experts........19
Newborn Screening Experience for Galactosemia in México........19
Newborn Screening for Biotinidase Deficiency Using a Totally Automated System and Enzymatic Analysis With Results Expressed in nmol/min/mL........9
Newborn Screening for Congenital Adrenal Hyperplasia (CAH): Improving the Effectiveness of the Neonatal 17OH-Progesterone (N17OHP) and Serum Confirmatory Tests........50
Newborn Screening for Cystic Fibrosis in Nuevo León, México........92
Newborn Screening for Maple Syrup Urine Disease (MSUD) Using a Totally Automated System........9
Newborn Screening for Pompe Disease: Trying to Reach an Earlier Diagnosis........105
Newborn Screening of Special Cases—Preterm Newborns, Low Birth Weight Infants and Severely Ill Infants: Establishing a National Protocol........59
Nine Year Experience of a Provincial Newborn Screening Program........26
Nutritional Status and Body Composition of Patients With Hepatic Glycogen Storage Diseases........34
Nutritional Status and Carnitine Levels in Patients With Nephropatic Cystinosis........20
Nutritional Status by Anthropometry in Children Diagnosed With Inborn Errors of Metabolism........78
Nutritional Treatment for Maple Syrup Urine Disease (MSUD): A Case Report........70
Objectives and Quality Requirements in Neonatal Screening Programs. A Relevant Tool in Public Health........18
Obtention of Low Phenylalanine Whole Blood for Preparation of Reference Materials and Calibrators for Newborn Screening Using Phenylalanine Ammonia Lyase........105
Optic Nerve Enlargement in a Case of Krabbe Disease........72
Organic Acidurias in Chile: Evaluation After a Year of Implementation of Urinary Organic Acids Test by Gas Chromatography-Mass Spectrometry (GC-MS)........15
Outcome in Patients With Phenylketonuria (PKU): What Should be Improved?........83
Panorama of the Last Year of Operation of MSUD Network........85
Parenting Styles and Coping Strategies in Congenital Hypothyroid Children........73
Pelizaeus Merzbacher: A Rapidly Fatal Leukodystrophy........72
Perception That Medical Students Have About Neonatal Screening Tests for Inborn Metabolic Diseases in Four Hospitals........61
Peroxisomal Disorders With Neonatal Presentation: Clinical Features, Imaging Findings and Lab Tests in a Series of Chilean Patients........24
Phenylalanine Hydroxylase (PAH) Production in L. Plantarum as a Potential Orally Administered Enzyme Replacement Therapy........38
Phenylketonuria: Analysis of Adiponectin, Biomarkers and Anthropometric Parameters........41
Phenylketonuria: Analysis of Gut Microbiome Using Next-Generation Sequencing........41
Phenylketonuria Newborn Screening Experience In México Epidemiological Overview........31
Plasma Oxysterol Analysis for Niemann-Pick Type C Disease Diagnosis and Pre-Analytical Conditions........88
Pregnancy in a Patient With Mucopolysaccharidosis Type I (MPS I) Treated With Enzyme Replacement Therapy—Case Report........68
Prevalence of Hemoglobin Patterns in Newborns Screened in the Public Health System in Rio Grande Do Sul State, Southern Brazil, From 2004 to 2014........45
Prevalence of Sickle Cell Trait and Sickle Cell Anemia From the Neonatal Screening Program in the Pará State, Brazil in 2014........61
Production of Human Recombinant Iduronate-2-Sulfatase in Two Microbial Hosts........39
Propionic Acidemia and Humoral Immune Deficiency........29
Qualitative Survey Tool to Evaluate Neonatal Screening Centers: Neonatal Screening Program (NSP) Zulia-Venezuela Experience........40
Quality Guarantee of Neonatal Screening Assays........61
Rating Leukocyte Alpha-Glucosidase Using a Natural Substrate for the Diagnostic Approach of Pompe Disease........53
Real-World Experience in the Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 (CLN2): Report From an International Collaboration of Experts........75
Recommendations for Enzyme Replacement Therapy in Classical Phenotype of Fabry Disease in Latin America........21
Regulation of the Antioxidant Enzymes Catalase and Glutathione Peroxidase 1 by Kinase C-ABL in Neuronal Models of Niemann-Pick C Disease........21
Relation Between Positivity of 17 Hydroxyprogesterone Determination and Non Eutocic Childbirths........51
Relationship Between Anthropometric Development and Metabolic Control of Children With Diagnosis of Maple Syrup Urine Disease (MSUD) Monitored in a Reference Service in Newborn Screening (RSNS)........82
Renal Failure in Propionic Acidemia, Not Such an Infrequent Complication: Report of 2 Cases........67
Response to Compassionate Use of Triheptanoin in Infants With Cardiomyopathy Due To Long Chain Fatty Acid Oxidation Defects (LC-FAODS)........64
Results of Expanded Newborn Screening in the Health Services of the Mexican Navy........34
Retrospective Diagnosis of Lysosomal Acid Lipase Deficiency........94
Review of the Immunoreactive Trypsinogen (IRT) Cutoff Value For Neonatal Screening of Cystic Fibrosis (CF)........40
Smith-Lemli-Opitz. Clinical Spectrum........97
Sphingomyelin Metabolism and Fibrosis Development in Livers of Niemann–Pick Type B Disease Patients and the Mouse Model........22
Spontaneous Subdural Hematoma in Mucopolysaccharidosis: Report of Five Cases and Literature Review........86
Stability of Creatine Kinase in Dried Blood Spots........59
Standardization of a Molecular Method for Mutations Detection in the CFTR Gene in Patients With Cystic Fibrosis Suspicion in Southern Brazil........23
Standardization of TPP1 Assays for Testing Neuronal Ceroid Lipofuscinosis LCN2 Disease........51
Statistical Analysis for the Preanalytical Stage Sampling for Newborn Screening in Costa Rica........45
Strategy for the Implementation of a Neonatal Screening Program in a Municipality of Bolivia With S.U.M.A. Technology........104
Study of Three Years of Newborn Screening for Cystic Fibrosis in the Public Health System in Southern Brazil........44
Sumautolab: Automatic Analyzer of Suma® Technology for Neonatal Screening........28
Systematic Review of Liver Cancer Differential Expression Analysis Using Oncomine: Genes Causing Hepatic Glycogenosis and its Implication in Hepatocarcinogenesis........76
Targeted Metabolomics Reveals Changes Caused by Biotin Deprivation in Rats........35
The Feasibility of Using an MSMS Based Method With Perkin Elmer Lysosomal Storage Disease (LSD) Reagents to Implement a Newborn Screening Test for Six LSD........84
The Role of the Laboratory in the Early Diagnosis of Cystic Fibrosis........63
The Role of the Psychologist as a facilitator of Mourning From Preparation Helping Improve Adherence to Treatment of Phenylketonuria........83
The Use of Percentiles for Determination of Cut-Off Values in Newborn Screening Using Totally Automated System and Multiplex Assays........95
The Use of Tandem Mass Spectrometry in Newborn Screening........58
Three Cases of Niemann Pick Type C: Clinical, Biochemical and Molecular Aspects........67
Transient Congenital Hypothyroidism due to Biallelic Defects in DUOX2 Gene........16
Triheptanoin as a Potential Treatment for Genetic Disorders of Energy Metabolism........35
Twelve Years of Neonatal Screening Program for Congenital Hypothyroidism........101
Undescribed Altered Biotinidase Activity in Metabolic Pathologies Unrelated to defects in the Cycle of Biotin........77
Urea Cycle Disorders: Previous and Novel Genetic Findings in Argentine Patients........110
Validation of Prescan Function of Autodelfia Software........12
Validation of the GSP 2021® for the Performance of Newborn Screening Tests in Southern Brazil........23
Variability of Thyroid Stimulating Hormone (TSH) Values in Newborn Dry Blood Samples According to Birth Weight and Maternal Body Mass Index in a Mexican Population........87
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency: Acylcarnitine (AC) Profile in Two Different Situations: Newborn Screening Versus Metabolic Decompensation........78
Vitamin B12 Deficit in Infant of a Vegetarian Mother: Application of Tandem Mass Spectrometry and Gas Chromatography........91
When Two Conditions With Similar Features Meet: A Case of Erdheim Chester Disease in a Patient With a Common Genetic Disorder........65
White Matter Disorders in a Serie of 150 Patients With Metabolic Disease........102
Wolman Disease … Not so Wolman........57
Workflow Improvements Obtained With Automation of Traditional Newborn Screening Assays on the Perkinelmer GSP® High-Throughput System........11
β-Glucosidase Gene Mutations in Patients With Gaucher Disease in Western Venezuela........49
INDEX BY AUTHORS
A. Pearce, D.........75
Abdenur, J.........109
Abrahamov, A.........55
Abreu Soto, D.........26, 44, 66, 76
Acosta, J.........49
Acosta Sánchez, T.........52
Acuña, M.........22, 57, 91
Adjuto, G.........48
Adriana Temponi, A.........79
Aguilera, S.........27
Airenne, S.........11
Albarracin, M.........81
Albrekt, A.........25, 26, 96
Alcántara-ortigoza, M.........14, 87
Alméciga Díaz, C.........109
Alméciga-diaz, C.........39
Almeciga, C.........38
Almenares Guasch, P.........22
Alonso Jiménez, E.........27
Alonso, P.........63
Alvarado, D.........107
Alvarado Romero, D.........26
Alvarez, A.........21, 38
Alvarez Sollazi, C.........81
Alvear, C.........74
Amaral Boa Sorte, N.........14
Amaral, C.........18
Amorim, T.........14, 46, 47, 82
Andrade, L.........72
Andrade Sousa, M.........9
Andrea, B.........57
Angaroni, C.........77, 110
Anjos Da Silva, A.........86
Anés, M.........110
Aranda, C.........13, 40, 98, 100, 106
Araya, G.........72, 95
Araya, S.........73
Arce Quintana, J.........28
Ardila, A.........38
Ardila Gomez, Y.........93, 99
Arenas-velazquez, E.........25
Arguellles, A.........42
Arias, C.........13, 15, 17, 44, 93, 110
Arias Pefaur, C.........67
Arias Vidal, C.........50, 64, 92
Arita, D.........66
Arranz, J.........110
Arredondo Vazquez, P.........78
Arrese, M.........22, 57, 91
Arriagada, P.........72, 95
Arroyo, H.........94
Arroyo, J.........107
Arteaga Cano, M.........30
Arteaga Yera, A.........37, 51
Artigalas, O.........108
Assunção Do Amor Divino, S.........9
Asteggiano, C.........24
Ayub, E.........103
Bachega, T.........50
Bahena-bahena, D.........25
Balcell, S.........76
Baldo, G.........20
Balut, F.........24
Bambara, C.Naymark, L.........105
Barbara, O.........27
Barbosa Trapp, F.........89
Barboza, M.........74
Barrera Avellaneda, L.........93, 99
Barrera, L.........39, 109
Barriga, F.........57
Barrios, A.........17, 24, 60, 73, 79, 80, 102
Barrios, P.........68
Barrios Rocha, L.........91
Barth, A.........86
Basgalupp, S.........52
Bassino, S.........16, 103
Batista, C.........85, 90
Bay, L.........57
Bazaldua Ledesma, V.........70
Bazan, C.........81
Becerra, A.........34, 51, 88
Belforte, F.........16
Belgorosky, A.........13
Belmont-martínez, L.........10, 20, 75
Beltran, O.........32, 61, 96
Beltrán Casas, O.........72
Beltrán, L.........109
Beltrán, O.........29, 68
Beltrão, L.........89
Benetti, S.........42
Benitez, C.........57
Benítez, C.........22
Bento Dos Santos, B.........34
Bergadá, I.........33, 36, 73, 86
Bernardes, F.........9, 95, 96
Bernardi, P.........99, 108
Besen, A.........78
Betta, K.........15, 58
Bezard, M.........77
Bhattacharjee, F.........106
Bindi, V.........57
Bittar, C.........99
Blanco, V.........83
Blom, H.........97, 108
Boa Sorte, N.........108
Boalento, J.........9, 95, 96
Bonaglia, R.........97
Bonetto, V.........83
Bonilla, Y.........39
Borjas, L.........49
Borrajo, G.........12, 42, 56, 57, 81, 82, 105
Borsatto, T.........99, 108
Boyanovsky, A.........36
Braslavsky, D.........36
Bravin, C.........63, 69
Bravo, P.........13, 27, 67, 93, 110
Brill-almon, E.........55
Brockmann, K.........69
Brue, T.........36
Bruggendieck, B.........101
Bueno, C.........66
Buiras, V.........83
Bunster, J.........17
Burciaga Torres, M.........19, 31, 43, 53, 54
Burin, M.........90
Bustamante Saénz, A.........92
Busto Aguiar, R.........68
Cé, J.........53
Cabello, J.........13, 15, 39, 44, 58, 67, 72, 93, 95, 106, 110
Cabrera, A.........16, 42, 67, 83, 97
Camacho, N.........107
Camayd Viera, I.........10, 15, 28, 68
Camelo, J.........99
Camelo Jr, J.........59
Campbell, C.........83
Campi, V.........13
Campo, K.........67, 93, 110
Campo Perez, K.........13, 44
Campodonico, P.........72
Campos, E.........94
Campos García, F.........47
Canales, P.........79
Canto, A.........23
Carabajal, R.........70
Carbajal, B.........32
Cardenas Galli, J.........102
Cardoso, M.........48
Carlos Pías, N.........28, 37
Carminati, N.........103
Carolina, A.........27
Carozza, P.........84, 85, 105
Carrera, J.........24
Carrillo, D.........101
Carrillo Estrada, U.........26, 44, 66, 76
Caruilli, J.........107
Carvajal Martínez, F.........37
Carvalho, D.........50
Carvalho, F.........99
Carvalho, G.........108
Castañeda, M.........105
Castells Martínez, E.........22, 37
Castillo Brito, J.........72
Castillo, C.........98, 106
Castillo, P.........82
Castro, B.........16, 103
Castro, G.........13, 44, 67, 93, 110
Castro, J.........21, 91
Castro, K.........41, 97
Castro, M.........67, 97
Castro, S.........23, 44, 45, 89
Castrogrokoski, K.........34
Cerisola, A.........67
Cesari, N.........56, 91
Chablé ........50, 92
Chacin Hernandez, J.........11, 18, 40
Chahla, R.........81
Chapper, M.........44, 89
Chaves Guzmán, I.........26, 89
Chertkoff, L.........107
Chertkoff, R.........55
Chiesa, A.........12, 16, 33, 36, 73, 86, 98, 100, 106
Chrisostomo, P.........41
Cismondi, I.........34, 51
Civallero, G.........89
Claudia Do Couto, C.........83
Cánepa, P.........63
Coelho, J.........53
Collazo Mesa, T.........54
Collet, I.........36
Conceição Da Purificação, A........9
Concepción Alvarez, A.........15
Concha, C.........101
Contreras Capetillo, S.........47
Contreras, N.........74
Contreras, P.........21, 38
Contreras Roura, J.........10, 27, 52, 68
Cooper, P.........55
Cornejo, V.........13, 15, 44, 67, 93, 110
Correa Motta, S.........69
Costagliola Martorona, A.........11, 18, 40
Crespo, C.........107
Cristian Amaral Boa Sorte, N.........46, 47, 82
Crystal, R.........19, 75
Cupil, G.........50, 92
Curiati, M.........62
Czubarko, L.........26, 96
D Alessandro, V.........81
D. Schwartz, I.........78
Da Anunciação Do Espírito Santo, D.........14, 46, 47, 82, 104
Dain G. Horovitz, D.........86
Dalla-corte, A.........60, 68, 86, 110
Dalmeida, V.........97, 108
Dani, C.........53
Davila Aliaga, C.........101
Díaz Alvarado, L.........66
Díaz, C.........102
Díaz, D.........109
Díaz Fuentes, Y.........44
Díaz Gallardo, J.........64
Díaz, R.........102
De Jesus, V.........59
De La Parra, A.........17, 43, 110
De La Torre García, O.........34, 64, 87
De León Ojeda, N.........52
De Los Reyes, E.........19, 75
De Luca, G.........99
De Mari, J.........89
De Medeiros, P.........99
De Moura Coelho, D.........85
De Oliveira Poswar, F.........29, 48
De Sampaio Leite Jobim Wilson, M.........29
De Souza, C.........41, 99
Del Carril, A.........103
Del Río Fabre, L.........22, 51, 91
Del Vecchio, L.........47
Delgado Gonzalez, E.........19
Delgado González, E.........31, 43, 53, 54
Delgado Pérez, R.........91
Deon, M.........88
Di Carlo, C.........12
Di S. D’andréa, L.........110
Diaz, D.........39
Diedrich, V.........45
Dietz, M.........82
Diez, G.........81
Dlugoszewski, C.........94
Doña, V.........82
Dobbler, P.........41
Dodelson De Kremer, R.........24, 30, 76, 77, 110
Doederlein Schwartz, I.........29, 34, 76, 81, 97, 108
Donado Barros, M.........98
Doriqui, M.........108
Dornelles, C.........23, 44, 89
Dratler, G.........13, 40, 98, 100
Dri, J.........32
Dueñas Roque, M.........30, 70
Dulín, E.........18
Durand, C.........70, 84, 105, 109
Dure, A.........98, 100
Dussan, A.........61
Echeverri Peña, O.........93, 99
Efigenia De Queiroz Leite, M.........14, 46, 47, 82, 104
Eguileor, I.........18
Eiroa, H.........106, 107
Elescano, A.........32
Elias, A.........81
Elisabelle Letícia, E.........79
Enacan, R.........12, 16, 33, 36, 100
Espada, M.........18
Espejo, Á.........39
Espejo Mojica, A.........109
Espinosa, E.........99
Espinosa Reyes, T.........37
Estrada-veras, J.........65, 77
Eto, Y.........19, 75
F M Souza, C.........88
Fagondes, S.........68
Fain, H.........42, 83
Falcón Rodríguez, D.........68
Fanco, O.........74
Fardin, S.........63, 69
Fariña, G.........60, 80, 102
Faroña, G.........102
Farquharson, V.........47
Farret Refosco, L.........29, 34
Federhen, A.........90
Felix, T.........99
Fernandes Lorea, C.........48
Fernandez, L.........67, 97
Fernandez Menteberry, V.........98
Fernández, J.........78
Fernández Yero, J.........37
Fernández-lainez, C.........14
Ferrer Arreola, L.........19, 31, 53
Fierro, L.........95
Fiesco Roa, M.........69
Fietz, M.........75
Filho, R.........99
Filippon, L.........23, 45
Fillipon, L.........44
Filtrin, R.........103
Filtrín, R.........94
Fischer, G.........44
Fischinger De Souza, C.........48
Fischinger M. De Souza, C.........60, 86, 110
Fischinger Moura De Souza, C.........29, 85
Fishinger Moura De Souza, ........34
Flaherty, P.........42
Flandes, A.........102
Fonseca, G.........108
Forero Delgadillo, J.........93
Forero, L.........96
Frabasil, J.........84, 85, 105
Fraga, C.........12
Franchioni De Muñoz, L.........36
Franco, F.........18
Frías Figueroa, G.........28
Freeze, H.........24, 25
Freitas, T.........88
Frias, F.........9, 95, 96
Frómeta Suárez, A.........22, 28, 37
Fuanzalida, K.........58
Fuentes Smith, L.........27
Fuenzalida, K.........15, 110
Fuertes, A.........73, 78, 109
Funchal, C.........53
Furu, P.........11
Gaggioli, D.........84, 85
Gaggiolli, D.........105
Gahl, W.........65, 77
Galeano, J.........13
Gallo, B.........9
Galvis, J.........68
Gamboni, B.........32
García, A.........52
García De La Rosa, I.........22
García Álvarez, M.........28
García, M.........43
García Valdés, M.........17
Garcia, F.........55
Garcia, L.........66
Garcia, M.........110
Garcia, N.........49
Gatica, C.........32
Gatti, M.........83
Gelb, M.........84
Gelbert, N.........51
Giadach, C.........80
Giner-ayala, A.........30, 77, 88
Giraldo, P.........55
Gittermann, K.........80
Giugliani, R.........20, 60, 68, 86, 88, 89, 90, 108, 110
Glikman, P.........13, 40, 98, 100
Gómez, F.........12
Gómez, G.........49
Gómez, M.........103
Gámez Torres, G.........28
Goldbeck, A.........59
Gomes, L.........50
Gomez Castro, J.........93
Gomez Martinez, M.........54
Gonzalez Guerrero, J.........19
Gonzalez, N.........29
Gonzalez, V.........40
Gonzalez-rodriguez, D.........55
González Aguilera, D.........28
González Del Ángel, A.........14
González, F.........16
González Fernández, R.........51
González Guerrero, J.........31, 43, 53, 54
González Quintero, A.........61
González Reyes, E.........10, 15, 22, 27, 28, 37, 52, 68
González, V.........82
González Zamora, J.........75
González-del Angel, A.........87
González-hódar, L.........38
González-zuñiga, M.........38
González-palacios, J.........25
Gotta, G.........40, 100
Goulart, S.........63, 69
Graciana P. Perrone, S.........110
Graeff Burin, M.........89
Graiff, O.........81
Grandi, T.........23, 45
Granito, S.........81
Grau, G.........61
Gravina, L.........107
Grez, O.........17
Grinberg, D.........30, 76
Grob, F.........101
Grosso, C.........76
Gruñeiro -papendieck, L.........73, 86
Gruñeiro-papendieck, L.........16, 33, 36
Guastavino, M.........25
Guelbert, G.........88
Guelbert, N.........19, 34, 51, 88
Guercio, A.........16, 32, 103
Guerra, P.........24, 102
Guevara Morales, J.........93, 99
Guillén López, S.........10, 20, 75
Guinle, A.........78
Guio, L.........68
Gus Kessler, R.........88
Guzman, G.........73, 80, 102
Guzmán, G.........17, 60, 79, 100
Hack Mendes, R.........41, 97
Hadachi, S.........66
Hakala, H.........11
Hall, E.........59
Hamilton, V.........13, 67, 93, 110
Hannon, H.........107
Hayashi, G.........50
Häberle, J.........110
Hendges De Bitencourt, F.........81, 85
Henriquez Daudinot, L.........26
Henriquez, L.........76
Hernan, E.........57
Hernández, A.........79
Hernández-vázquez, A.........35
Herrera Gana, M.........65
Herrera Pérez, L.........50, 64, 87, 92
Hidalgo, M.........24, 80, 102
Hidalgo Ugarte, L.........104
Hill, L.........77
Hirano, M.........71, 94
Hours, R.........105
Héron, B.........19, 75
Hunt, M.........40, 98, 106
Ibarra Gonzalez, I.........87
Ibarra González, I.........47, 92
Ibarra-gonzález, I.........14, 20, 35
Iglesias, A.........71
Iglesias Benitez, A.........28
Isabel Spínola Castro, I.........79, 83
Izzo, E.........75
J Zamaro, P.........59
Jaque, C.........102
Jarufe, N.........57
Jimenez Hernandez, M.........45
Jiménez Hernández, M.........26
Jiménez Hérnandez, M.........89
Jiménez, M.........107
Jonantan De Oliveira, J.........83
Jordan, K.........55
Josiane Cecília Alves, J.........79, 83
Jove, A.........14
Juan Francisco, C.........27
Juanes, M.........13
Junco, M.........13, 40, 100, 106
Juárez-cruz, M.........10, 20, 75
Kakkis, E.........35
Karunen, J.........11
Kerokoski, P.........11
Keselman, A.........36, 73, 86
Kim, C.........108
Klein, P.........26, 96
Kleinert Altamirano, A.........69
Kohan, R.........34, 51
Kohlschütter, A.........75
Kok, F.........66
Konzen, D.........48
Kopacek, C.........89
Korpimaki, T.........11
Kraychete Costa, B.........14, 46, 47, 82
Kyosen, S.........108
L Cohen-pfeffer, J.........19, 75
Labaut, K.........52
Ladino, Y.........96
Lara, S.........102
Larrabure Torrealva, G.........101
Larrinaga Vicente, L.........52
Laróvere, L.........110
Lavado Ariza, M.........30
Leal, M.........27
Lee, F.........107
Lefrán Gómez, M.........61
Leistner-segal, S.........78, 90
Leistner-segal, S.........99
Leitão, A.........61
Lemes, A.........16, 30, 67, 97
Lemus Arias, G.........98
Leon, D.........100
Letelier, M.........58
Lewis, D.........55
Leyva Mendez, P.........70
Lima, S.........99
Lira, J.........9, 95, 96
Liu, M.........107
Lobato, V.........16, 103
Lobo, G.........101
Londoño, C.........27
Loos, M.........94
Lopes Carneiro, K.........48
Lopez, C.........102
Lopez He Chavarria, K.........54
Lopez Uriarte, G.........78
Lopez Valdez, J.........25
Loría Fernández, J.........47
Lourenço, C.........99, 108
Lozano, M.........27
López Brauet, L.........61
López, F.........73
López, M.........63
López Uriarte, G.........66, 92
Lubieniecki, F.........94
Lujan Lujan, C.........101
Luna Claraso, A.........81
Luís Canto, L.........83
Álvarez Abreu, M.........91
M Carvalho, T.........59
Mabe, P.........22, 57, 80
Maccalini, G.........13
Maccallini, G.........98, 100, 106
Maccarone, M.........78, 109
Macedo, J.........23, 45
Machado, M.........16
Madrigal Mendoza, L.........33, 64
Madureira, G.........50
Magalhães, J.........68
Maggi, L.........42
Mahfoud, A.........11
Makinen, P.........11
Maldonado, F.........106
Maldonado Solís, F.........47, 50, 64, 92
Maldonado Solís, M.........50, 64, 92
Malerba, H.........44
Malvasi, G.........25
Manica, D.........68
Manterola, C.........67
Marchi, A.........59
Marchione, M.........70, 78, 109
Marino, R.........13
Marino, S.........13, 40, 100
Marín, T.........21
Marques Lourenço, C.........75
Marquez, W.........29, 68
Marsden, D.........35
Martin, S.........36
Martinez Cruz, P.........64
Martinez Garza De Villarreal, L.........78
Martins, A.........62, 108
Martins, H.........66
Martínez Cruz, P.........47, 50, 92
Martínez Garza, L.........66, 92
Martínez, J.........57
Martínez, L.........30
Martínez Ramos, J.........51
Martínez Rey, L.........10, 15, 28, 44, 52, 54, 68
Martínez-cruz, V.........87
Martínez-duncker, I.........25
Masnata, M.........16
Massari, M.........78
Massi, A.........9, 95, 96
Mateluna, C.........102
Matte, U.........20, 90
Maya, J.........93
Mayorga, L.........32
Mejìa Villan, I.........18
Mejia Millan, I.........40
Mello, A.........53
Mendes, C.........62
Mendes, R.........41
Mendez, V.........12, 33
Mendiola Ramirez, K.........31
Mendiola Ramírez, K.........19, 53
Mendonça, B.........50
Mendoza, A.........102
Menéndez Saínz, M.........52
Merio, L.........11
Mescka, C.........88
Micenmacher, V.........98, 100
Michelin-tirelli, K.........89
Micolich Espejo, V.........100
Mikhailova, S.........19
Millan, F.........102
Miller, N.........19, 75
Mink, J.........19
Miño Arango, M.........93
Miquel, J.........22, 57
Miranda Contreras, L.........11
Miranda, L.........49
Miranda, M.........50
Miras, M.........36
Miriam, C.........57
Méndez, D.........74
Méndez, K.........49
Méndez, S.........30
Méndez, V.........36
Modesti Vedolin, L.........110
Mole, S.........75
Mondragón Gaviria, M.........93
Moneriz, C.........74
Monges, S.........94
Monroy-santoyo, S.........75
Montoya, J.........55
Moraes Ferreira, M.........60, 110
Morales, A.........103
Morales Acosta, M.........30, 70
Morales, M.........103
Morales Perralta, E.........52
Morejón García, G.........22
Moreno Arango, J.........28
Moreno, C.........108
Moreno Graciano, C.........50, 64, 92
Moreno, L.........55
Moreno Silva, P.........53
Mosquera, A.........109
Motta Correia, S.........63
Márquez Félix, E.........60
Munguía Ramirez, M.........90
Muntaabski, P.........40, 100, 106
Muntaasbki, P.........98
Muñoz Chesta, D.........102
Muñoz, D.........24, 73, 80
Muñoz, M.........65
Muñoz, N.........31
Muschietti, L.........42, 73
Musso, M.........73, 86
Nader, J.........103
Naini, A.........71
Nalin, T.........34, 41, 78
Naretto, A.........56, 91
Nascimento, E.........61
Naylor, E.........106
Neto, E.........99
Núñez, M.........73
Núñez Miñana, M.........42
Ng, B.........24, 25
Nilo, K.........24
Nogueras Rodríguez, L.........10, 68
Noher De Halac, I.........34, 51, 75
Nori Rodrigues Taniguchi, A.........29
Novoa, F.........95
Nuevas Paz, L.........15
Obando Rodríguez, S.........26, 89
Obando Rodriguez, S.........45
Obrien, K.........65, 77
Ocampo, J.........74
Ocando Pino, L.........11, 18, 40
Odriozola, A.........40, 100
Olarte, S.........39
Olguín, P.........17
Oliva, B.........72, 95
Oliveira, F.........41
Oller-ramirez, A.........51
Oller-ramìrez, A.........34, 51
Oller-ramirez, A.........77
Olvera Alvarez, J.........90
Oneto, A.........98, 106
Onetto, A.........100
Opazo, M.........101
Oropeza, G.........30
Ortega, P.........60
Ortega-garcía, A.........25
Ortíz Garcia, F.........90
Otegui, M.........107
Oyarzún, J.........91
Pachajoa, H.........62, 63
Pacheco, M.........94, 103
Pacheco, N.........86
Padrón Díaz, A.........10, 68
Palomino Ochoa, C.........101
Papazoglu, G.........24
Papendieck, P.........16
Pardo Campos, M.........73, 86
Pardo, T.........49
Parente, M.........56
Parra, P.........24
Pasqualim, G.........20
Passamani, E.........63, 69
Pasteris, E.........13, 103
Patiño-félix, F.........25
Peña Cabrera, A.........92
Peña, K.........58
Peralta, L.........88
Peredo, P.........93, 110
Pereira, L.........18
Pereira, M.........88
Pereira Pondé, M.........104
Pereyra, M.........32, 103
Perez Garrido, N.........13
Pesaola, F.........34, 51
Petakov, M.........55
Piazzon, F.........66
Picado Gutierrez, J.........18, 40
Pico García, J.........28
Piñeros-fernandez, M.........27
Pilar, P.........27
Pilot Roque, Y.........54
Pimentel-vera, L.........39
Pinto E Vairo, F.........29, 34
Pinto, L.........99
Pinto, M.........39
Pinto Vairo, F.........88
Pistaccio, L.........56
Polari, H.........11
Politei, J.........21
Poloni, S.........41, 97, 108
Pons, P.........51
Porras, L.........31, 49
Posso, J.........62, 63
Poutou-piñales, R.........39
Prado, M.........89
Pérez Moras, P.........22, 37
Pérez Reyes, P.........90
Prieto, L.........12, 33, 36
Procopio, D.........42, 81
Prötzel Pinedo, A.........70
Pulido Ochoa, N.........93, 99
Queijo, C.........16, 30
Quintana Guerra, J.........22
Quinto, A.........74
R Vargas, C.........88
Rafaelli, C.........90
Raimann, E.........110
Ramirez, P.........13
Ramirez Rey, A.........32, 61
Ramírez, A.........38, 68, 109
Rand, M.........62
Ranieri, E.........66, 84
Raíssa Hilda, R.........79
Rautenberg, G.........34, 51
Raymond, K.........25
Refosco, L.........41, 48
Regina Gomes De Queiroz, I.........104
Reis, B.........48
Retamales, A.........80
Reuben, A.........107
Reyes Navarro, L.........54
Reynaud, R.........36
Ribas, G.........88
Ribeiro, E.........99
Ribeiro, M.........108
Rispoli, T.........23, 44
Rivera, G.........80
Rivera-nieto, C.........27
Rivolta, C.........16
Rámirez, A.........62
Roa, J.........57
Robaina, Z.........66
Robinson Hidalgo, A.........104
Rocha, H.........108
Rodríguez, A.........39
Rodríguez Araya, A.........26
Rodríguez, E.........74
Rodríguez Hernández, E.........68
Rodríguez López, A.........109
Rodriguez, A.........38, 39
Rodriguez, E.........100
Roesch, L.........41
Rojas, C.........21, 79, 100, 102
Rojas C, A.........65
Romariz Ferreira, F.........85
Ropelato, G.........98, 100
Rosabal Polonshkov, A.........22
Rosseti, L.........23
Rousseau, R.........106
Rozenfeld, P.........60, 94
Rubio Torres, A.........22
Ruggieri, V.........94
Ruiz, I.........17, 24
Ruiz-garcía, M.........25
Ruíz, F.........62
Sabina Cebreiros, M.........61
Saborio Rocafort, M.........26, 45
Saborío, M.........107
Saborío Rocafort, M.........89
Saez, V.........80
Salazar Escalante, R.........47, 64
Salazar Ortiz, Y.........91
Salerno, M.........73
Sales Vianna, F.........81
Salgado, P.........32, 68
Salgado Riaño, P.........72
Salina, M.........70
Salinas-marín, R.........25
Salvatierra, I.........14
Sampaio Filho C.........9, 95, 96
Sampaio Filho (Jr), Claudio(1)........64
Sanchez, A.........55
Sanchez, M.........15
Sanchez, O.........38
Sanchez Peña, M.........70, 78
Sanchez Zebadua, R.........64
Sanseverino, M.........68
Santamaria, L.........13
Santana Da Silva, L.........18
Santander, P.........17, 60, 73, 79, 80, 100, 102
Santiago, G.........101
Santos Calmon, L.........14, 46, 47, 82, 104
Sarquis Cintra, T.........63, 69
Satizabal, J.........55
Saveanu, A.........36
Schenone, A.........70, 73, 78, 84, 85, 105, 109
Schneider, A.........20
Scholz Magalhães, A.........89
Schuchman, E.........22
Schulz, A.........19, 75
Schwartz, I.........41, 48, 52, 99
Schweigert Perry, I.........34
Segura González, M.........22
Seppala, J.........11
Sequeira Gudiel, B.........91
Serrato Sanchez, K.........70, 78
Sáez, C.........24
Sfeir, C.........80
Siacar, S.........14
Siebert, M.........41, 52
Sierra-ramírez, A.........31
Signorino, M.........36
Silva, A.........68
Silva, E.........66
Silva, O.........61
Silva, R.........99
Silva, V.........9, 95, 96
Silvano, L.........36
Silvera-ruiz, S.........110
Silvestre, J.........31
Simonati, A.........19, 75
Sims, K.........19
Sitta, A.........29, 85
Smithuis, F.........40, 106
Sánchez Peña, A.........66
Sánchez, Y.........49
Sánchez-pérez, M.........87
Sánchez-verdiguel, I.........87
Sobrero, G.........36
Socorro Perez-poyato, M.........19
Socorro Pérez-poyato, M.........75
Sokn, S.........78, 84, 85, 105, 109
Solano, M.........49
Solares, C.........17
Sololsky, T.........106
Souza, C.........68, 78, 108
Souza, H.........88
Spécola, N.........73
Specola, N.........42
Sperb-ludwig, F.........97, 99
Spritzer, P.........97
Stark, S.........84
Staropoli, J.........107
Steiner, C.........108
Stivel, M.........98
Suldrup, N.........24, 56, 91
Sun, C.........107
Suárez, A.........74
Suárez Besil, B.........28
Szlago, M.........32, 70, 109
Tamayo Chang, V.........52
Tan, E.........55
Tapiero, S.........49
Taratuto, A.........94
Targovnik, H.........16
Tavares, A.........20
Taylor, J.........107
Teixeira, A.........85
Teixeira, R.........48
Teixidor Llopiz, L.........10
Tejeda Gómez, Y.........22
Tello, J.........17
Teper, A.........40
Testa, G.........36
Texidor Llopiz, L.........28
Thomas, J.........48
Timm Souza, F.........88
Tiscornia, M.........25
Toledano Hernández, A.........28
Toledo, L.........48
Tommasi, F.........109
Tonon, T.........41, 48, 85
Toro, C.........77
Torres, C.........101
Torres Chirinos, Y.........11, 18, 40
Torres, D.........52
Torres, E.........40
Torres, M.........47, 78
Torres Quevedo, E.........18
Torres Sepúlveda, M.........66, 92
Torres Sepulveda, M.........78
Torriente Valle, J.........26, 44, 66, 76
Tournier, A.........82
Touzon, S.........13
Trigo, C.........25
Trigo Madrid, M.........34, 64, 87
Trindade, E.........61
Trindade, S.........18
Troncoso, L.........17, 60, 73, 79, 80, 100, 102
Troncoso, M.........17, 24, 60, 73, 79, 80, 100, 102
Tucci, S.........97
Turró ........61
Uribe Ardila, A.........53, 86
Urreizti, R.........76
Vaiani, E.........13
Vairo, F.........41, 48, 52, 68, 78, 110
Valdebenito, S.........101
Valdes Fraser, Y.........28
Valerie, H.........44
Valiente, A.........15, 39, 58, 67, 110
Valladares, E.........108
Valle, G.........12
Valle, S.........16, 103
Vallejo Ardila, D.........76
Vanessa D. Schwartz, I.........86
Vanessa Doederlein Schwartz, I.........85
Vargas, C.........68
Vargas, P.........89
Varughese, S.........55
Vasconcelos, G.........48
Vega, R.........101
Vega, S.........72
Vela Amieva, M.........33, 47, 87, 92
Vela Amieva, M.Ibarra González, I.........50
Vela-amieva, M.........20, 75, 106
Velasco, H.........49
Velasco, R.........98
Velasquez Rivas, D.........78, 109
Vela-amieva, M.........10, 14, 35
Velázquez-arellano, A.........35
Verdaguer, L.........103
Veturiano, R.........9, 95, 96
Viegas, M.........48
Vieites, A.........100
Vilche Juarez, A.........47
Villarías, N.........16, 103
Villarreal Perez, J.........78
Villarreal Pérez, J.........66, 92
Viviani, P.........101
Vogt, R.........107
Wajner, M.........29
Wanderley, H.........108
Wanjrach, M.........55
Weber, C.........45
Weber, G.........108
Weil, K.........70
Wicki, A.........100
Wiley, V.........58
Williams,R.........19
Witting, S.........60, 79, 80, 102
Wong Matos, F.........28
Wou, K.........71
Xin, W.........51
Yasno, D.........61
Yazdanpanah, G.........107
Yáñez, C.........17
Zabala, C.........16, 67, 97
Zabala, W.........49
Zaldívar, T.........52
Zambrano, K.........72, 95
Zamora, J.........102
Zanlungo, S.........21, 22, 38, 57, 91
Zayas Torriente, G.........26, 44, 66, 68, 76
Zimran, A.........55
Zubizarreta, R.........18
Zumaeta Beramendi, R.........101