Aging is associated with an increased risk for Parkinsons disease(PD)and dementia with Lewy bodies(DLB),in which alpha-s......

目的：探讨戈谢病的临床特点及诊断。方法回顾性分析1例经酶学及基因学诊断的戈谢病Ⅱ型患儿的临床特点、葡萄糖脑苷酯酶活性及基因......

目的探讨激活葡萄糖脑苷脂酶(GBA)对帕金森病患者皮肤成纤维细胞自噬活性的影响。方法取32例帕金森病患者的皮肤标本进行成纤维细......

BACKGROUND The most common lysosomal storage disorder is Gaucher disease (GD). It is a deficiency of lysosomal glucocere......