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Gaucher disease, type 1

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Gaucher disease, type 1
An AR noncerebral juvenile form of GD most common in Ashkenazi Jews caused by a defect in glucocerebrosidase, leading to glucocerebroside accumulation in the spleen, liver, lymph nodes Clinical Splenomegaly, anemia, thrombocytopenia, ↑ skin pigmentation, yellow fatty spot on white of eye–pinguecula, severe bone involvement can lead to pain and collapse of hips, shoulders, vertebral column


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