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A 27-year-old womanwas admitted for further examination of thrombocytopenia. Symptomswere absent, but physical examination demonstrated hepatosplenomegaly without neurological abnormalities. Bone marrow examination revealed many Gaucher cells, and glucocerebrosidase activity from cultured skin fibroblasts was markedly reduced. A 1448C (L444P) mutation was detected on one allele of the glucocerebrosidase gene. Because magnetic resonance imaging (MRI) of the femora indicated severe infiltrationdoi:10.2169/internalmedicine.40.716 fatcat:lesuqrdnzrethpxuieo6u5yoye