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| 中国戈谢病诊治专家共识 | |
| 作者姓名： | Lysosomal storage disorders medical collaboration group |
| 摘 要： | 戈谢病(Gaucher disease)是最常见的溶酶体贮积病之一,属常染色体隐性遗传病.该病由于基因突变导致机体葡萄糖脑苷脂酶(glucocerebrosidase,又称酸性β葡萄糖苷酶,acid β-lucosidase)活性缺乏,造成其底物葡萄糖脑苷脂(glucocerebroside)在肝、脾、骨骼及肺、甚至脑的巨噬细胞溶酶体中贮积,形成典型的贮积细胞即戈谢细胞,导致受累组织器官出现病变. |
Experts consensus on diagnosis and treatment of Gaucher disease in China |
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| Lysosomal storage disorders medical collaboration group.Experts consensus on diagnosis and treatment of Gaucher disease in China[J].National Medical Journal of China,2011,91(10):665-668. | |
| Authors: | Lysosomal storage disorders medical collaboration group editorial board of "Experts consensus on diagnosis and treatment of Gaucher disease in China" |
| Institution: | Lysosomal storage disorders medical collaboration group(LMG), editorial board of "Experts consensus on diagnosis and treatment of Gaucher disease in china" |
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