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[Prenatal diagnosis of enzymopathies of the urea cycle]
B Chadefaux1, D Rabier, P Kamoun
1Laboratoire de Biochimie Génétique, Hôpital Necker Enfants Malades, Paris.
Annales De Biologie Clinique
|January 1, 1988
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.