title: Diagnosis and mutational analysis of maple syrup urine disease using cell cultures.
authors.affiliation: Department of Biochemistry, University of Texas, Southwestern Medical Center, Dallas 75390-9038, USA.
authors.forename: J L
authors.initials: JL
authors.lastname: Chuang
authors.forename: D T
authors.initials: DT
authors.lastname: Chuang
mesh_terms: D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); D001483:Base Sequence; D015152:Blotting, Northern; D015153:Blotting, Western; D002478:Cells, Cultured; D004252:DNA Mutational Analysis; D018076:DNA, Complementary; D006801:Humans; D007658:Ketone Oxidoreductases / Q000235:genetics* / Q000378:metabolism; D007700:Kinetics; D008375:Maple Syrup Urine Disease / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics*; D008969:Molecular Sequence Data; D009097:Multienzyme Complexes / Q000235:genetics* / Q000378:metabolism; D011296:Prenatal Diagnosis
chemical_list: D018076:DNA, Complementary; D009097:Multienzyme Complexes; D007658:Ketone Oxidoreductases; D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)