Potential pitfall of prenatal enzymatic diagnosis of carbamoyl-phosphate synthetase I deficiency.
Yoshino
M
M
Department of Pediatrics and Child Health, Kurume University School of Medicine, Japan.
Nishiyori
A
A
Koga
Y
Y
Mizushima
Y
Y
Maeshiro
H
H
Inoue
T
T
Izumi
S
S
Hatase
T
T
Yakushiji
M
M
Kato
H
H
D000328:Adult; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000172:deficiency*; D005260:Female; D006801:Humans; D011296:Prenatal Diagnosis
D002222:Carbamoyl-Phosphate Synthase (Ammonia)