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Hemorrhagic Aspects of Gaucher Disease

Gaucher disease (GD) is an inherited lysosomal disorder, originating from deficient activity of the lysosomal enzyme glucocerebrosidase (GCase). Normally, GCase hydrolyzes glucocerebroside (GC) to glucose and ceramide; however, impaired activity of this enzyme leads to the accumulation of GC in macr...

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Detalles Bibliográficos
Autor principal: Rosenbaum, Hanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rambam Health Care Campus 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4222428/
https://www.ncbi.nlm.nih.gov/pubmed/25386355
http://dx.doi.org/10.5041/RMMJ.10173