Early prenatal diagnosis of lysosomal storage disorders by enzymatic and molecular analysis
Prenatal Diagnosis2018Vol. 38(10), pp. 779–787
Citations Over TimeTop 25% of 2018 papers
Li Duan, Yunting Lin, Yonglan Huang, Wen Zhang, Minyan Jiang, Xiuzhen Li, Xiaoyuan Zhao, Huiying Sheng, Xi Yin, Xueying Su, Yongxian Shao, Zongcai Liu, Dong‐Zhi Li, Fatao Li, Can Liao, Li Liu
Abstract
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.
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