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- W274574974 abstract "Gaucher's Disease (G.D.) is an autosomal recessive disorder resulting from the accumulation of glucocerebrosidase in the cells of macrophage-monocyte system as a result of a deficiency in lysosomal glucocerebrosidase. This enzyme is encoded by a gene on chromosome-1. Here we report a case of Gaucher's Disease .G.D is rare in Yazd.We reported a patient that presented with weakness, pallor and gradually increasing abdominal girth. Clinical examination and history pointed to be a lipid storage disease. Final diagnosis of G.D. was reported after examining the bone marrow smears. Confirmation of diagnosis on Gaucher's disease was performed by measurement of glucocerebrosidase level.We report a case of G.D. to emphasize the importance of early recognition by clinical manifestation and histological findings. G.D. should be considered in the differential diagnosis of children with unexplained splenomegaly." @default.
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- W274574974 date "2013-01-01" @default.
- W274574974 modified "2023-09-23" @default.
- W274574974 title "Gaucher's Disease, an Unusual Cause of Massive Splenomegaly, a Case Report." @default.
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