[Gaucher Disease].
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.
Center for Lysosomal Storage Disease, National Center for Child Health and Development.
Torayuki
T
Okuyama
D056947:Enzyme Replacement Therapy; D005776:Gaucher Disease / Q000175:diagnosis* / Q000453:epidemiology / Q000628:therapy*; D005962:Glucosylceramidase / Q000172:deficiency* / Q000378:metabolism; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods; D006801:Humans; D007564:Japan; D016896:Treatment Outcome
D005962:Glucosylceramidase