Isolated and combined deficiencies of the alpha-keto acid dehydrogenase complexes.
Robinson
B H
BH
Department of Genetics, University of Toronto, Canada.
Chun
K
K
Mackay
N
N
Otulakowski
G
G
Petrova-Benedict
R
R
Willard
H
H
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
D009097:Multienzyme Complexes; D007658:Ketone Oxidoreductases; D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)