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Keyword - Gaucher disease (KW-0307)


Protein which, if defective, causes Gaucher disease, the most prevalent sphingolipid storage disorder caused by a recessively inherited deficiency of the enzyme glucocerebrosidase. Most common in Ashkenazi Jews, it is associated with hepatosplenomegaly (enlargement of liver and spleen) and, in severe early onset forms of the disease, with neurological dysfunction.




Gaucher diseaseDisease
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