Article

Gaucher disease and other storage disorders

2012-12-08

Abstract excerpt

Abstract In 1882, Philippe Gaucher described a 32-year-old woman with massive splenomegaly and unusually large cells in the spleen, which he called a “primary epithelioma of the spleen.” The systemic nature and inheritance of the disease and its variants involving the viscera and CNS were described over the next century. The delineation of the causal enzymatic defects, genetics, molecular pathology, and genomics h...

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Literature Corpus work: 5a3d4cbc-9733-5f05-99fc-55ad353a26c9
DOI: 10.1182/asheducation.v2012.1.13.3797921

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