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

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

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 accum...

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Bibliographische Detailangaben
Veröffentlicht in:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 52(2014), 6 vom: 04. Juni, Seite 403-8
1. Verfasser: Zheng, Jipeng (VerfasserIn)
Weitere Verfasser: Huang, Yonglan, Zhao, Xiaoyuan, Sheng, Huiying, Cheng, Jing, Zhou, Zhihong, Li, Xiuzhen, Mao, Xiaojian, Liu, Li
Format: Aufsatz
Sprache:Chinese
Veröffentlicht: 2014
Zugriff auf das übergeordnete Werk:Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:Journal Article Research Support, Non-U.S. Gov't Glycosaminoglycans N-Acetylgalactosamine-4-Sulfatase EC 3.1.6.12