title: 3-Ketothiolase deficiency: heterogeneity in a defect of mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients.
authors.affiliation: Department of Pediatrics, Gifu University School of Medicine, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Nagasawa
authors.forename: S
authors.initials: S
authors.lastname: Yamaguchi
authors.forename: T
authors.initials: T
authors.lastname: Orii
authors.forename: R B
authors.initials: RB
authors.lastname: Schutgens
authors.forename: L
authors.initials: L
authors.lastname: Sweetman
authors.forename: T
authors.initials: T
authors.lastname: Hashimoto
mesh_terms: D000101:Acetyl-CoA C-Acetyltransferase / Q000096:biosynthesis; D000102:Acetyl-CoA C-Acyltransferase / Q000096:biosynthesis / Q000172:deficiency*; D000217:Acyltransferases / Q000172:deficiency*; D002460:Cell Line; D002648:Child; D005347:Fibroblasts; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008715:Methionine / Q000493:pharmacokinetics; D008928:Mitochondria / Q000201:enzymology*; D013460:Sulfur Isotopes
chemical_list: D013460:Sulfur Isotopes; D008715:Methionine; D000217:Acyltransferases; D000102:Acetyl-CoA C-Acyltransferase; D000101:Acetyl-CoA C-Acetyltransferase