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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...
Autor principal: | Rosenbaum, Hanna |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Rambam Health Care Campus
2014
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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 |
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