Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet

Author:

El-Gharbawy Areeg H.,Boney Anne,Young Sarah P.,Kishnani Priya S.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference7 articles.

1. Lactic Acidemia: Disorders of Pyruvate Carboxylase and Pyruvate Dehydrogenase;Robinson,2001

2. Mutation in the X-linked pyruvate dehydrogenase (E1) a subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency;Lissens,2000

3. Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase deficiency;Cederbaum;Pediatr Res,1976

4. Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations.;Wexler;Neurology,1997

5. Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency;Naito;J Neurol Sci,2002

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