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Article

[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jun 2014

Zheng Jipeng, Huang Yonglan, Zhao Xiaoyuan, Sheng Huiying, Cheng Jing, Zhou Zhihong, Li Xiuzhen, Mao Xiaojian, Liu Li

Abstract excerpt

OBJECTIVE: Mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome is an autosomal recessive lysosomal storage disease caused by a deficiency of arylsulfatase B(ARSB), which is required in the degradation of dermatan sulfate and chondroitin sulfate. The deficiency of ARSB leads to an accumulation of dermatan sulfate and chondroitin sulfate in lysosomes and gross excretion in the urine.Few articles about...

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Source

Identifiers

PMID: 25190157

Genes

ARSB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI].PMID 25190157Read ↗

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Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.Semantic proximity Read ↗

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