[Lysosomal enzyme analysis of mucolipidosis type II α/β and type III α/β in two Chinese pedigrees].

Tiantian He,Jing Chen,Shanling Liu,He Wang,Xuemei Zhang

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics（2022）

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摘要

Based on the lysosomal enzyme analysis of the two cases and literature review, ASA, GUSB, Hex A+B and α-man are recommended as the evaluating indicators for lysosomal enzyme analysis of ML type II α/β and type III α/β.

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