title: [Genetic defect of pyruvate dehydrogenase].
authors.forename: K
authors.initials: K
authors.lastname: Koike
authors.forename: Y
authors.initials: Y
authors.lastname: Urata
mesh_terms: D004796:Clinical Enzyme Tests; D003001:Cloning, Molecular; D004247:DNA; D005260:Female; D006801:Humans; D008297:Male; D011768:Pyruvate Dehydrogenase Complex / Q000235:genetics* / Q000378:metabolism; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000175:diagnosis / Q000235:genetics*; D015323:Pyruvate Metabolism, Inborn Errors / Q000235:genetics*
chemical_list: D011768:Pyruvate Dehydrogenase Complex; D004247:DNA