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Overview

Gaucher disease


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A genetically determined (autosomal recessive) disease resulting from the deposition of glucocerebrosides (see cerebroside) in the brain and other tissues (especially bone). It results in mental retardation, abnormal limb posture and spasticity, and difficulty with swallowing. Carrier detection and preimplantation genetic diagnosis are possible; enzyme replacement therapy may be used in treatment. P. C. E. Gaucher (1854–1918), French physician


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