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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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Bibliografiske detaljer
Udgivet i:Rambam Maimonides Med J
Hovedforfatter: Rosenbaum, Hanna
Format: Artigo
Sprog:Inglês
Udgivet: Rambam Health Care Campus 2014
Fag:
Online adgang: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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