Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Neurology
Reference22 articles.
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2. Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex;Robinson;J. Inherit. Metab. Dis.,1996
3. Mutation in the X-linked pyruvate dehydrogenase(E1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency;Lissens;Human Mutat.,2000
4. Recurrent muscle weakness and ataxia in thiamine-responsive pyruvate dehydrogenase complex deficiency;Kinoshita;J. Child Neurol.,1997
5. Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency;Di Rocco;Eur. J. Paediatr. Neurol.,2000
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