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First published 2015

Consanguinity and Geographic Origin of Patients With Autosomal Recessive Metabolic Disorders Evaluated in a Reference Service in Campinas,Brazil

Cristiano Guimarães Kozuki, Carlos Eduardo Steiner

Journal of Inborn Errors of Metabolism and Screening

Retricted access

Case report

First published 2009-04

Spondylocostal Dysostosis Associated with Methylmalonic Aciduria

Rachel S. Honjo, Erasmo B. Casella, Maria A. Vieira [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Case report

First published 2026

Propionic Acidemia in a Preterm Neonate with Ambiguous Genitalia: Two Generations Affected by Five Infant Deaths

Aneeta Chaudhary, Rahul Singh, Shalini Tripathi [...]

Journal of Neonatology

Retricted access

Research article

First published 2026

Successful multidisciplinary management of pregnancy in a woman with glycogen storage disease type IIIA

Loai A. Shakerdi, Halima Mshelia, Abrar Al Zaher [...]

Obstetric Medicine

Open access

Research article

First published 2015

Late Diagnosis of Primary Hyperoxaluria by Crystals in the Bone Marrow!

Mohammed Hameed, Kashif Eqbal, Beena Nair [...]

Nephrology @ Point of Care

Retricted access

Research article

First published 2009-10

Typical Neuroradiological Diagnosis of Maple Syrup Urine Disease as a Precursor to Clinical Diagnosis

K.G. Srinivasan, S. Ramprabananth, K.P. Ushanandhini [...]

The Neuroradiology Journal

Open access

Research article

First published 2016

Late Diagnosis of Fanconi-Bickel Syndrome

Nirupama Gupta, Bimota Nambam, David A. Weinstein [...]

Journal of Inborn Errors of Metabolism and Screening

Retricted access

Case report

First published 2010-9

Wilms Tumor in a Child with L-2-hydroxyglutaric Aciduria

Robert E. Rogers, Ralph J. DeBerardinis, Laura J. Klesse [...]

Pediatric and Developmental Pathology

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Research article

First published 2023-5

Angiopathy and Stroke Associated with Homocystinuria in Childhood

Zeferino Demartini, Pedro Juan Furtado Neves, Andre Luis Santos do Carmo [...]

Vascular and Endovascular Surgery

Open access

Case report

First published 2025

A Case of Rafiq Syndrome (MAN1B1-CDG) in a Palestinian Child,With Brief Literature Review of 44 Cases

Reema Iskafi, Bahaa AbuRahmeh, Roa’a Aljuneidi [...]

Journal of Investigative Medicine High Impact Case Reports

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