title: [Prenatal diagnosis of enzymopathies of the urea cycle].
abstract: Seven defects of the urea cycle enzymes were obtained in 48 hours at-risk pregnancies. A new method for measuring ornithine transcarbamylase and carbamylphosphate synthetase-I was used for prenatal diagnosis of the related enzymopathies in chorionic villi.
authors.affiliation: Laboratoire de Biochimie Génétique, Hôpital Necker Enfants Malades, Paris.
authors.forename: B
authors.initials: B
authors.lastname: Chadefaux
authors.forename: D
authors.initials: D
authors.lastname: Rabier
authors.forename: P
authors.initials: P
authors.lastname: Kamoun
mesh_terms: D001124:Argininosuccinate Synthase / Q000172:deficiency*; D056807:Argininosuccinic Aciduria; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000172:deficiency*; D005260:Female; D006801:Humans; D020162:Hyperargininemia; D008025:Ligases / Q000172:deficiency*; D008190:Lyases / Q000172:deficiency*; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014508:Urea / Q000378:metabolism*
chemical_list: D014508:Urea; D008190:Lyases; D008025:Ligases; D002222:Carbamoyl-Phosphate Synthase (Ammonia); D001124:Argininosuccinate Synthase
vernacular_title: Diagnostic prénatal des enzymopathies du cycle de l'urée.