Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes

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 n...

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Detalles Bibliográficos
Autores principales: Orenstein, Marissa, Barbouth, Deborah, Bodamer, Olaf A, Weinreb, Neal J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4230272/
https://www.ncbi.nlm.nih.gov/pubmed/24685312
http://dx.doi.org/10.1186/1750-1172-9-45

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