Phenotypically mild presentation in a patient with 2-methylacetoacetyl-coenzyme A (beta-keto)thiolase deficiency.
Gibson
K M
KM
Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas, USA.
Feigenbaum
A S
AS
D000102:Acetyl-CoA C-Acyltransferase / Q000172:deficiency*; D005260:Female; D006801:Humans; D007223:Infant; D010641:Phenotype
D000102:Acetyl-CoA C-Acyltransferase