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作品数:15被引量:35H指数:3
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相关领域:医药卫生更多>>
相关作者:郑化余永莉更多>>
相关机构:武汉理工大学江南大学更多>>
相关期刊:《Chinese Medical Journal》《Signal Transduction and Targeted Therapy》《World Journal of Dermatology》《Frontiers in Biology》更多>>
相关基金:国家自然科学基金中国博士后科学基金更多>>
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A boy with mucopolysaccharidosis type Ⅱ accompanied with a novel variation in heparan-N-sulfatase
《Chinese Medical Journal》2019年第18期2254-2256,共3页Yu-Jue Li Xue-Yang Tang Yang Meng Guo-Jing Luo Xi-Jie Yu 
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).
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 defi...
关键词:MUCOPOLYSACCHARIDOSIS LYSOSOMAL enzyme storage disorders 
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