beta-Ketothiolase (2-methylacetoacetyl-coenzyme A thiolase) deficiency: identification of two patients in Israel.
Gibson
K M
KM
Department of Neurology, University of Texas Southwestern Medical Center, Dallas, USA.
Elpeleg
O N
ON
Bennett
M J
MJ
D000102:Acetyl-CoA C-Acyltransferase / Q000032:analysis / Q000172:deficiency*; D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics / Q000378:metabolism; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007223:Infant; D007532:Isoleucine / Q000378:metabolism; D007557:Israel; D007657:Ketone Bodies / Q000378:metabolism
D007657:Ketone Bodies; D007532:Isoleucine; D000102:Acetyl-CoA C-Acyltransferase