- Original Article
- A case of Gaucher's Disease Diagnosed by beta-Glucosidase Enzyme Deficiency.
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Hwan Gyn Park, Yil Sub Lee, Chang Hyun Yang, Chang Ho Hong, Sung Kyu Lee, Kyung Soon Song, Hyeon Joo Jeong
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Clin Exp Pediatr. 1990;33(4):514-521. Published online April 30, 1990
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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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