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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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| Izdano u: | Rambam Maimonides Med J |
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| Glavni autor: | |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Rambam Health Care Campus
2014
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4222428/ https://ncbi.nlm.nih.gov/pubmed/25386355 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5041/RMMJ.10173 |
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