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Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study.

Clinical genetics - 1 Jun 2023

Zhong Lin, Gao Xiaolan, Wang Yu, Qiu Wenjuan, Han Lianshu, Gu Xuefan, Zhang Huiwen

Abstract excerpt

Mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal storage disease caused by a disease-associated variant in the IDS gene, which encodes iduronate 2-sulfatase (IDS). We aimed to characterize the clinical characteristics and genotypes of the largest cohort of Chinese patients with MPS II and so gain a deeper understanding of natural disease progression. Patients with confirmed MPS II and...

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PMID: 36945845
DOI: 10.1111/cge.14329

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