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| SPECIALIST ANSWERS
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Question |
Gaucher disease whats new tretment? Any information how to diagnosis articls about gaucher
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Answer |
Bone marrow demonstration of glycolipid-laden macrophages in bone marrow aspirate is diagnostic. Confirmation of diagnosis can be done by estimation of Acid beta-glucosidase activity in blood. Enzyme replacement therapy for Gaucher disease is now available.The macrophage targeted acid beta-glucosidase is highly effective in reversing the visceral and hematologic manifestations of Gaucher disease, but skeletal disease is slow to respond. Treatment typically is administered once every other week . (30-60 U/kg IV q2wk)
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