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

二维码有效期 120s

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.

作者单位 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 ^[1] Department of Pediatric Surgery, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China ^[2] 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;Department of Orthopedics, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China ^[3]

栏目名称 Correspondence

DOI 10.1097/CM9.0000000000000426

发布时间 2019-11-20

基金项目

grants from the National Natural Science Foundation of China the Science and Technology Department of Sichuan Province Postdoctoral Science Foundation of China the Sichuan University

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准确一般字义偏差语意偏离译文作用小提交