Okuyama Torayuki
Center for Lysosomal Storage Disease, National Center for Child Health and Development.
Brain Nerve. 2015 Sep;67(9):1109-13. doi: 10.11477/mf.1416200267.
Gaucher disease is an autosomal recessive disorder caused by congenital deficiency of lysosomal glucocerebrosidase. Gaucher disease is classified into three types. In addition to enzyme replacement therapy, substrate reduction therapy, chemical chaperon therapy, and hematopoietic stem cell transplantation therapy are considered for the effective treatment of Gaucher disease.
戈谢病是一种常染色体隐性疾病，由溶酶体葡萄糖脑苷脂酶先天性缺乏引起。戈谢病分为三种类型。除酶替代疗法外，底物减少疗法、化学伴侣疗法和造血干细胞移植疗法也被认为是有效治疗戈谢病的方法。
