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Article

[Clinical characterization and mutation identification for multiple sulfatase deficiency patients in China].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Nov 2013

Meng Yan, Zhang Wei-min, Shi Hui-ping, Yao Feng-xia, Qiu Zheng-qing, Yang Tao, Zhao Shi-min, Huang Shang-zhi

Abstract excerpt

OBJECTIVE: Multiple sulfatase deficiency is a rare autosomal recessively inherited lysosomal storage disorder characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. The aim of this study was to explore the clinical manifestations, enzyme activities and SUMF1 gene mutations in two Chinese patients with multiple sulfatase deficiency. METHOD: One boy and one girl from two families were...

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Source

Identifiers

PMID: 24484558

Genes

SUMF1

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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