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Article

[Mutation analysis and prenatal diagnosis of 2 cases with mucopolysaccharidosis type I].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Apr 2011

Wang Xin-Ning, Wei Min, Shi Hui-Ping, Qiu Zheng-Qing, Yao Feng-Xia, Meng Yan, Zhang Wei-Min

Abstract excerpt

OBJECTIVE: Mucopolysaccharidosis type I (MPS I; MIM# 252800) is an autosomal recessive disease that results from the deficiency in the lysosomal enzyme α-L-iduronidase(IDUA). IDUA is one of the enzymes involved in degradation of glycosaminoglycans heparan sulphate and dermatan sulphate. The deficiency of IDUA leads to widespread accumulation of partially degraded mucopolysaccharides inside lysosomes, resulting in...

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Source

Identifiers

PMID: 21624210

Genes

IDUA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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