title: 3-Ketothiolase deficiency: molecular heterogeneity of the enzyme defect and cloning of the cDNA.
authors.affiliation: Department of Pediatrics, Gifu University School of Medicine, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Yamaguchi
authors.forename: T
authors.initials: T
authors.lastname: Fukao
authors.forename: H
authors.initials: H
authors.lastname: Nagasawa
authors.forename: T
authors.initials: T
authors.lastname: Orii
authors.forename: N
authors.initials: N
authors.lastname: Sakura
authors.forename: R B
authors.initials: RB
authors.lastname: Schutgens
authors.forename: L
authors.initials: L
authors.lastname: Sweetman
authors.forename: Y
authors.initials: Y
authors.lastname: Fujiki
authors.forename: K
authors.initials: K
authors.lastname: Kamijo
authors.forename: T
authors.initials: T
authors.lastname: Osumi
mesh_terms: D000101:Acetyl-CoA C-Acetyltransferase / Q000096:biosynthesis / Q000235:genetics*; D000123:Acetyltransferases / Q000235:genetics*; D000595:Amino Acid Sequence; D015153:Blotting, Western; D002648:Child; D002675:Child, Preschool; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics; D005260:Female; D005347:Fibroblasts; D006801:Humans; D007223:Infant; D007662:Ketosis / Q000235:genetics; D008297:Male; D008928:Mitochondria / Q000201:enzymology*; D008969:Molecular Sequence Data; D009154:Mutation
chemical_list: D004247:DNA; D000123:Acetyltransferases; D000101:Acetyl-CoA C-Acetyltransferase