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Article

Hypercoagulability, parkinsonism, and Gaucher disease.

Seminars in thrombosis and hemostasis - 1 Nov 2013

Rosenbaum Hanna, Aharon-Peretz Judith, Brenner Benjamin

Abstract excerpt

Gaucher disease (GD) is a lysosomal disorder caused by inherited deficiency of glucocerebrosidase (GCase), resulting in the accumulation of glucocerebroside in macrophages, termed "Gaucher cells," leading to multiorgan involvement, with hepatosplenomegaly, cytopenias, pulmonary hypertension, and skeletal complications. Various mutations, encoding the GCase gene, cause acute or chronic neuronopathic forms of the...

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PMID: 24129683
DOI: 10.1055/s-0033-1357485

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