title: Molecular diagnosis of maple syrup urine disease: screening and identification of gene mutations in the branched-chain alpha-ketoacid dehydrogenase multienzyme complex.
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: K
authors.initials: K
authors.lastname: Ohta
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: D001402:B-Lymphocytes / Q000378:metabolism; D002459:Cell Fusion; D002460:Cell Line; D004247:DNA / Q000378:metabolism; D015971:Gene Expression Regulation, Enzymologic; D005816:Genetic Complementation Test; D005820:Genetic Testing; D006801:Humans; D008375:Maple Syrup Urine Disease / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D016133:Polymerase Chain Reaction; D011494:Protein Kinases / Q000235:genetics / Q000378:metabolism*
chemical_list: D004247:DNA; D011494:Protein Kinases; C035627:(3-methyl-2-oxobutanoate dehydrogenase (lipoamide)) kinase