[尿素循环酶病的产前诊断]
[Prenatal diagnosis of enzymopathies of the urea cycle].
作者信息
Chadefaux B, Rabier D, Kamoun P
机构信息
Laboratoire de Biochimie Génétique, Hôpital Necker Enfants Malades, Paris.
出版信息
Ann Biol Clin (Paris). 1988;46(7):471-6.
PMID:3056128
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.
摘要
在48小时的高危妊娠中发现了7例尿素循环酶缺陷。一种测量鸟氨酸转氨甲酰酶和氨甲酰磷酸合成酶-I的新方法被用于绒毛膜绒毛中相关酶病的产前诊断。
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