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

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 mutation...

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Veröffentlicht in:	Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 51(2013), 11 vom: 31. Nov., Seite 836-41
1. Verfasser:	Meng, Yan (VerfasserIn)
Weitere Verfasser:	Zhang, Wei-min, Shi, Hui-ping, Yao, Feng-xia, Qiu, Zheng-qing, Yang, Tao, Zhao, Shi-min, Huang, Shang-zhi
Format:	Aufsatz
Sprache:	Chinese
Veröffentlicht:	2013
Zugriff auf das übergeordnete Werk:	Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:	Journal Article Research Support, Non-U.S. Gov't Oxidoreductases Acting on Sulfur Group Donors EC 1.8.- SUMF1 protein, human EC 3.1.6.- Sulfatases