Succinyl-CoA:acetoacetate transferase deficiency. Identification of a new case; prenatal exclusion in three further pregnancies.
Centre d'Etudes des Maladies Métaboliques, Hôpital Debrousse, Lyon, France.
M O
MO
Rolland
N
N
Guffon
G
G
Mandon
P
P
Divry
D002675:Child, Preschool; D015256:Coenzyme A-Transferases / Q000172:deficiency*; D005260:Female; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012008:Recurrence
D015256:Coenzyme A-Transferases; C021460:3-ketoacid CoA-transferase