Article
Gaucher disease: new molecular approaches to diagnosis and treatment.
Science (New York, N.Y.) - 8 May 1992
Beutler E
Abstract excerpt
Gaucher disease is characterized by the accumulation of glucocerebroside, leading to enlargement of the liver and spleen and lesions in the bones. It is caused by an inherited deficiency of the enzyme glucocerebrosidase. Many mutations exist, but four of these account for over 97% of the mutations in Ashkenazi Jews, the population group in which Gaucher disease is the most common. Although there is a strong...
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