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Initiation of Enzyme Replacement Therapy for an Adult Patient with Asymptomatic Type 1 Gaucher's Disease
2001
Internal medicine (Tokyo. 1992)
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 infiltration
doi:10.2169/internalmedicine.40.716
fatcat:lesuqrdnzrethpxuieo6u5yoye