3-Ketothiolase deficiency: heterogeneity in a defect of mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients.
Nagasawa
H
H
Department of Pediatrics, Gifu University School of Medicine, Japan.
Yamaguchi
S
S
Orii
T
T
Schutgens
R B
RB
Sweetman
L
L
Hashimoto
T
T
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
D013460:Sulfur Isotopes; D008715:Methionine; D000217:Acyltransferases; D000102:Acetyl-CoA C-Acyltransferase; D000101:Acetyl-CoA C-Acetyltransferase