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Original Article

A case of Gaucher's Disease Diagnosed by beta-Glucosidase Enzyme Deficiency.

Hwan Gyn Park, Yil Sub Lee, Chang Hyun Yang, Chang Ho Hong, Sung Kyu Lee, Kyung Soon Song, Hyeon Joo Jeong

Clin Exp Pediatr. 1990;33(4):514-521. Published online April 30, 1990

We experienced a case of adult type Gaucher’s disease in a 2 year 9 month old female. The patient had hepatosplenomegaly with anemia and characteristic Gaucher cells in bone marrow aspiration and biopsy of liver and spleen. Diagnosis was confirmed by demonstration of β-glucosidase enzyme deficiency in circulating leukocytes. Partial splenectomy was followed by improvement of anemia and thrombocytopenia. A brief review of literature was done.

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