Search results: Sage Journals

Restricted accessOtherFirst published February, 2011

Experience With Hyperphenylalaninemia in a Developing Country: Unusual Clinical Manifestations and a Novel Gene Mutation

Pascale E. Karam, Rose T. Daher, Lisbeth B. Moller [...]

Journal of Child Neurology

Open accessReview articleFirst published 2026

Epidemiology of Hyperphenylalaninemia: A Systematic Review and Meta-Analysis

Tamás István Dóczi, Shailja Vaghela, George Dennis Obeng [...]

Sage Open Pediatrics

Free accessResearch articleFirst published July, 2008

Use of Acute Hyperphenylalaninemia in Rhesus Monkeys to Examine Sensitivity and Stability of the l -[1- 11 C]Leucine Method for Measurement of Regional Rates of Cerebral Protein Synthesis with Pet

Carolyn B Smith, Kathleen C Schmidt, Shrinivas Bishu [...]

Journal of Cerebral Blood Flow & Metabolism

Free accessResearch articleFirst published June, 2014

Cost-benefit analysis of Hyperphenylalaninemia Due to 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency: For Consideration of Expanded Newborn Screening in Hong Kong

Hencher Han-chih LEE, Chloe Miu MAK, Grace Wing-Kit Poon [...]

Journal of Medical Screening

Restricted accessResearch articleFirst published September, 1999

Mutations in Exon 3 of the PAH Gene Causing Mild Hyperphenylalaninemia

Cezary Zekanowski, Maria Nowacka, Maria Gizewska [...]

Genetic Testing and Molecular Biomarkers

Restricted accessOtherFirst published February, 1997

Electromyographic Alterations in Hyperphenylalaninemia due to Dihydropteridine Reductase Deficiency

Enrico Zammarchi, Maria A. Donati, Elisabetta Pasquini [...]

Journal of Child Neurology

Open accessResearch articleFirst published 2016

Newborn Screening for Phenylketonuria

Gustavo J. C. Borrajo

Journal of Inborn Errors of Metabolism and Screening

Restricted accessResearch articleFirst published February, 1993

Elevated Phenylalanine Concentrations In Benign Hyperphenylalaninemia from Evaporated Milk Feedings

Marvin E. Miller, Pamela Plumeau, Eileen Blakely

Clinical Pediatrics

Free accessOtherFirst published September, 2001

Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience

Journal of Medical Screening

Restricted accessOtherFirst published February, 2011

Correspondence on ‘‘Experience With Hyperphenylalaninemia in a Developing Country: Unusual Clinical Manifestations and a Novel Gene Mutation’’

Marcela Vela-Amieva, Isabel Ibarra-González, Cynthia Fernández-Lainez [...]

Journal of Child Neurology

Restricted accessOtherFirst published February, 2011

Experience With Hyperphenylalaninemia in a Developing Country: Unusual Clinical Manifestations and a Novel Gene Mutation

Pascale E. Karam, Rose T. Daher, Lisbeth B. Moller [...]

Journal of Child Neurology

Open accessReview articleFirst published 2026

Epidemiology of Hyperphenylalaninemia: A Systematic Review and Meta-Analysis

Tamás István Dóczi, Shailja Vaghela, George Dennis Obeng [...]

Sage Open Pediatrics

Free accessResearch articleFirst published July, 2008

Use of Acute Hyperphenylalaninemia in Rhesus Monkeys to Examine Sensitivity and Stability of the l -[1- 11 C]Leucine Method for Measurement of Regional Rates of Cerebral Protein Synthesis with Pet

Carolyn B Smith, Kathleen C Schmidt, Shrinivas Bishu [...]

Journal of Cerebral Blood Flow & Metabolism

Free accessResearch articleFirst published June, 2014

Cost-benefit analysis of Hyperphenylalaninemia Due to 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency: For Consideration of Expanded Newborn Screening in Hong Kong

Hencher Han-chih LEE, Chloe Miu MAK, Grace Wing-Kit Poon [...]

Journal of Medical Screening

Restricted accessResearch articleFirst published September, 1999

Mutations in Exon 3 of the PAH Gene Causing Mild Hyperphenylalaninemia

Cezary Zekanowski, Maria Nowacka, Maria Gizewska [...]

Genetic Testing and Molecular Biomarkers

Restricted accessOtherFirst published February, 1997

Electromyographic Alterations in Hyperphenylalaninemia due to Dihydropteridine Reductase Deficiency

Enrico Zammarchi, Maria A. Donati, Elisabetta Pasquini [...]

Journal of Child Neurology

Open accessResearch articleFirst published 2016

Newborn Screening for Phenylketonuria

Gustavo J. C. Borrajo

Journal of Inborn Errors of Metabolism and Screening

Restricted accessResearch articleFirst published February, 1993

Elevated Phenylalanine Concentrations In Benign Hyperphenylalaninemia from Evaporated Milk Feedings

Marvin E. Miller, Pamela Plumeau, Eileen Blakely

Clinical Pediatrics

Free accessOtherFirst published September, 2001

Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience

Journal of Medical Screening

Restricted accessOtherFirst published February, 2011

Correspondence on ‘‘Experience With Hyperphenylalaninemia in a Developing Country: Unusual Clinical Manifestations and a Novel Gene Mutation’’

Marcela Vela-Amieva, Isabel Ibarra-González, Cynthia Fernández-Lainez [...]

Journal of Child Neurology