National Gaucher Foundation

SID > National Gaucher Foundation

Resumen

Gaucher, also referred to as Gaucher’s is an autosomal recessive disease and the most prevalent Lysosomal Storage Disorder (LSD) and is present in approximately 1 in 20,000 live births. Gaucher disease, also known as glucocerebrosidase deficiency, occurs when a certain lipid, glucosylceramide, accumulates in the bone marrow, lungs, spleen, liver and sometimes the brain. Despite the fact that the disease consists of a phenotype, with varying degrees of severity, it has been sub-divided in three subtypes according to the presence or absence of neurological involvement.

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Página web

http://www.gaucherdisease.org/

Dirección

National Gaucher Foundation
2227 Idlewood Road, Suite 6
Tucker, GA 30084

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