Early prenatal diagnosis of lysosomal storage disorders by enzymatic and molecular analysis.

Duan LiYunting LinYonglan HuangWen ZhangMinyan JiangXiuzhen LiXiaoyuan ZhaoHuiying ShengXi YinXueying SuYongxian ShaoZongcai LiuDong-Zhi LiFatao LiLiao Can Li Liu

Published in: Prenatal diagnosis (2018)

Based on different enzyme properties in uncultured CV, different prenatal diagnostic strategies should be adopted for MPS II and Pompe disease. Combining enzyme assay and molecular studies in uncultured CV improves the reliability of prenatal diagnosis of LSDs.

Keyphrases

late onset
pregnant women
high throughput
replacement therapy
hydrogen peroxide
case control
single cell