Article
Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes.
Orphanet journal of rare diseases - 31 Mar 2014
Orenstein Marissa, Barbouth Deborah, Bodamer Olaf A, Weinreb Neal J
Abstract excerpt
BACKGROUND: Gaucher disease, an autosomal recessive condition due to deficiency of lysosomal glucocerebrosidase, is a multisystemic disease, with variable age of onset, severity and progression. It is classified into subtypes delineated by the absence (type 1) or presence (type 2 and 3) of primary nervous system involvement. The ethnically diverse, largely immigrant population in South Florida has a spectrum of...
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