title: Maple syrup urine disease: clinical and biochemical significance of gene analysis.
authors.affiliation: Department of Pediatrics, Kumamoto University Medical School, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Nobukuni
authors.forename: H
authors.initials: H
authors.lastname: Mitsubuchi
authors.forename: I
authors.initials: I
authors.lastname: Akaboshi
authors.forename: Y
authors.initials: Y
authors.lastname: Indo
authors.forename: F
authors.initials: F
authors.lastname: Endo
authors.forename: I
authors.initials: I
authors.lastname: Matsuda
mesh_terms: D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); D001483:Base Sequence; D002461:Cell Line, Transformed; D002872:Chromosome Deletion; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004854:Herpesvirus 4, Human; D006801:Humans; D015151:Immunoblotting; D007658:Ketone Oxidoreductases / Q000235:genetics*; D008214:Lymphocytes / Q000201:enzymology; D008375:Maple Syrup Urine Disease / Q000235:genetics*; D008969:Molecular Sequence Data; D009097:Multienzyme Complexes / Q000235:genetics*; D009154:Mutation
chemical_list: D009097:Multienzyme Complexes; D004247:DNA; D007658:Ketone Oxidoreductases; D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)