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First published 2010-01

Management of West Syndrome in a Patient With Methylmalonic Aciduria

Philippe M. Campeau, Vassili Valayannopoulos, Guy Touati [...]

Journal of Child Neurology

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Research article

First published 2006-12

Clinical and Biochemical Studies on Chinese Patients With Methylmalonic Aciduria

Yanling Yang, Fang Sun, Jinqing Song [...]

Journal of Child Neurology

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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

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Research article

First published 2014-06

Correction of Methylmalonic Aciduria In Vivo Using a Codon-Optimized Lentiviral Vector

Edward S.Y. Wong, Chantelle McIntyre, Heidi L. Peters [...]

Human Gene Therapy

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Research article

First published 2015-2

A Novel SUCLA2 Mutation in a Portuguese Child Associated With “Mild” Methylmalonic Aciduria

Célia Nogueira, Maria Chiara Meschini, Claudia Nesti [...]

Journal of Child Neurology

Free access

Research article

First published 2017-6

Quantification of 2-methylcitric acid in dried blood spots improves newborn screening for propionic and methylmalonic acidemias

Osama Y Al-Dirbashi, Nathan McIntosh, Pranesh Chakraborty

Journal of Medical Screening

Open access

Research article

First published 2020-04-13

Practical management of organic acidemias

Kimberly A. Chapman

Translational Science of Rare Diseases

Free access

Research article

First published 1992-9

Comparison of Post-Mortem Urinary and Vitreous Humour Organic Acids

Michael J Bennett, Marie C Ragni, Ian Hood [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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Research article

First published 2005-11

Answer to Hypotonia: A Simple Hemogram

Güler Kanra, Mualla Cetin, Sule Unal [...]

Journal of Child Neurology

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Research article

First published 1992-4

Dietary Management of Inborn Errors of Amino Acid Metabolism With Protein-Modified Diets

Enolia Thomas

Journal of Child Neurology

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