MRI Features of 4 Female Patients With Pyruvate Dehydrogenase E1 alpha Deficiency

Author:

Ah Mew Nicholas,Loewenstein Johanna B.,Kadom Nadja,Lichter-Konecki Uta,Gropman Andrea L.,Martin Jodie M.,Vanderver Adeline

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,Neurology,Pediatrics, Perinatology, and Child Health

Reference23 articles.

1. Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again;Dahl;Am J Hum Genet,1995

2. Mutations in the x-linked pyruvate dehydrogenase (e1) alpha subunit gene (pdha1) in patients with a pyruvate dehydrogenase complex deficiency;Lissens;Hum Mutat,2000

3. Defects of pyruvate metabolism and the Krebs cycle;De Meirleir;J Child Neurol,2002

4. Mutations in the x-linked e1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex;Chun;Am J Hum Genet,1995

5. Magnetic resonance of myelination and myelin disorders;MSvd,2005

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