Article
Gaucher disease.
Joint bone spine - 1 Mar 2008
Guggenbuhl Pascal, Grosbois Bernard, Chalès Gérard
Abstract excerpt
Gaucher disease is an inherited recessive autosomal metabolic defect due to a deficiency of the lysosomal enzyme beta-glucocerebrosidase. The enzyme substrate, glucocerebroside, accumulates in the body, predominantly in the liver, spleen, and bone marrow. Osteoarticular manifestations are often inaugural and contribute much of the morbidity and disability associated with Gaucher disease. There are three types of...
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