Associated Papers
Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.
Ferriero R et al.
Annals of Clinical and Translational Neurology, 2014
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.
Imbard A et al.
Molecular Genetics and Metabolism, 2011
A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency.
Miné M et al.
Molecular Genetics and Metabolism, 0
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