A boy with mucopolysaccharidosis type II accompanied with a novel variation in heparan-N-sulfatase.
作者信息
Li Yu-Jue, Tang Xue-Yang, Meng Yang, Luo Guo-Jing, Yu Xi-Jie
机构信息
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 Pediatric Surgery, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China.
出版信息
Chin Med J (Engl). 2019 Sep 20;132(18):2254-2256. doi: 10.1097/CM9.0000000000000426.
Abstract
摘要
Zotero 插件