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  • Title: Regression of skeletal changes in type 1 Gaucher disease with enzyme replacement therapy.
    Author: Pastores GM, Hermann G, Norton KI, Lorberboym M, Desnick RJ.
    Journal: Skeletal Radiol; 1996 Jul; 25(5):485-8. PubMed ID: 8837283.
    Abstract:
    A 9-year-old patient presented with an acute onset of pain of the right femur showing destructive changes with periosteal elevation mimicking osteomyelitis. Technetium-99m sulfur colloid (99mTc SC) marrow scan revealed lack of uptake in the right femoral head and the entire shaft of the right femur. Eight months following enzyme replacement therapy, radiography showed almost complete reconstitution of the femoral shaft, and 99mTc SC marrow scan uptake returned to normal.
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