Article

Gaucher Disease: New Molecular Approaches to Diagnosis and Treatment

1992-05-08

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 relati...

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Literature Corpus work: a6259d31-927b-5b09-8372-19f2725f8ba8
DOI: 10.1126/science.256.5058.794

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