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Article

The role of neurogenetics in Gaucher disease.

Archives of neurology - 1 Nov 1993

Brady R O, Barton N W, Grabowski G A

Abstract excerpt

Gaucher disease is the most prevalent hereditary metabolic storage disorder, and the most common genetic disease in individuals of Ashkenazic Jewish ancestry. Patients with Gaucher disease have been classified into three clinical phenotypes. Patients with type 1 disease exhibit markedly variable hepatosplenomegaly, anemia, thrombocytopenia, skeletal, and, to a lesser extent, pulmonary and kidney involvement. The...

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Identifiers

PMID: 8215980
DOI: 10.1001/archneur.1993.00540110088009

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