A boy with mucopolysaccharidosis type Ⅱ accompanied with a novel variation in heparan-N-sulfatase  

作　　者：Yu-Jue Li Xue-Yang Tang Yang Meng Guo-Jing Luo Xi-Jie Yu 

机构地区：[1]Laboratory of Endocrinology and Metabolism, Department of Endocrinology and Metabolism, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China [2]Department of Pediatric Surgery, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China [3]Department of Orthopedics, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China

出　　处：《Chinese Medical Journal》2019年第18期2254-2256,共3页中华医学杂志（英文版）

基　　金：This work was supported by grants from the National Natural Science Foundation of China (Nos.81770875, 81702156, 81572639);the Science and Technology Department of Sichuan Province (No.2018SZ0142);Postdoctoral Science Foundation of China (No.2017M61060);the Sichuan University (Nos. 2018SCUH0093, 2017SCU12038).

摘　　要：To the Editor:The mucopolysaccharidosis (MPS) disorders are a group of rare,inherited lysosomal storage disorders in which progressive cellular accumulation of glycosaminoglycans (GAGs) caused by lysosomal enzyme deficiency,leads to multi-organ dysfunction.Each kind of MPS disorder (I-IX) is caused by deficiency of a specific lysosomal enzyme and subsequent degraded GAGs fragments increase in urine,blood,and cerebral spinal fluid.

关 键 词：MUCOPOLYSACCHARIDOSIS LYSOSOMAL enzyme storage disorders 

分 类 号：R[医药卫生]