Article
Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes.
Archives of internal medicine - 13 Sept 2010
Balwani Manisha, Fuerstman Laura, Kornreich Ruth, Edelmann Lisa, Desnick Robert J
Abstract excerpt
BACKGROUND: Type 1 Gaucher disease (GD), an autosomal recessive lysosomal storage disease, is most prevalent in the Ashkenazi Jewish (AJ) population. Experts have suggested that up to two-thirds of AJ homozygotes for the common mutation (N370S) are asymptomatic throughout life and never come to medical attention. However, there are no systematic studies of N370S homozygotes to support this presumption. METHODS:...
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