Associated Papers
Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.
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Annals of Clinical and Translational Neurology, 2014
Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit.
Hemalatha SG et al.
Human Molecular Genetics, 1995
Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex.
Chun K et al.
Human Molecular Genetics, 1993
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