Prenatal diagnosis of methylmalonic aciduria from amniotic fluid using genetic and biochemical approaches
Prenatal diagnosis of methylmalonic aciduria from amniotic fluid using genetic and biochemical approaches
复制标题
利用遗传和生化方法对羊水甲基丙二酸尿症进行产前诊断
DOI：
10.1002/pd.5519
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发表时间：
2019-08-05
影响因子：
3
通讯作者：
Han, Lianshu
中科院分区：
文献类型：
--
作者：
Ji, Xing;Wang, Huanhuan;Han, Lianshu
本研究报告了一个产前诊断中心8年来对甲基丙二酸血症（MMA）家系的临床产前诊断经验，并分析了生化方法产前诊断的可靠性。
This study reported the clinical prenatal diagnosis experience of families affected by methylmalonic acidemia (MMA) evaluated at a single prenatal diagnosis center over 8 years, and the reliability of a biochemical approach for prenatal diagnosis was analyzed.