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Case Report

A Case of Type 1 Gaucher Disease Treated with Enzyme Replacement

Jae-Bok Kim, Han-Wook Yoo

Clin Exp Pediatr. 1998;41(11):1590-1595. Published online November 15, 1998

Type 1 Gaucher disease is one of the most common genetic lysosomal storage disease caused by the deficiency of glucocerobrosidase. Deficiency of this enzyme results in accumulation of glucoceramide in the macrophage and leads to hepatosplenomegaly, pancytopenia, bone damage and sometimes can be fatal. Recently, enzyme replacement has been considered as a major therapeutic strategy and about 2,000 patients have...

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