Gaucher disease: insights from a rare Mendelian disorder.

Abstract excerpt

It has become increasingly clear that "simple" recessive disorders provide unique insight into the complexities of common diseases. For years, research on Gaucher disease, a rare inherited disorder resulting from a deficiency of the lysosomal enzyme glucocerebrosidase, focused on its cell pathology and genetic basis. Clinical research showed that Gaucher disease manifests with broad phenotypic variation typical...

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