title: Isolated and combined deficiencies of the alpha-keto acid dehydrogenase complexes.
authors.affiliation: Department of Genetics, University of Toronto, Canada.
authors.forename: B H
authors.initials: BH
authors.lastname: Robinson
authors.forename: K
authors.initials: K
authors.lastname: Chun
authors.forename: N
authors.initials: N
authors.lastname: Mackay
authors.forename: G
authors.initials: G
authors.lastname: Otulakowski
authors.forename: R
authors.initials: R
authors.lastname: Petrova-Benedict
authors.forename: H
authors.initials: H
authors.lastname: Willard
mesh_terms: D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics*; D002478:Cells, Cultured; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007658:Ketone Oxidoreductases / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D009097:Multienzyme Complexes / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D012867:Skin / Q000201:enzymology; D014960:X Chromosome
chemical_list: D009097:Multienzyme Complexes; D007658:Ketone Oxidoreductases; D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)