A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1/40,...

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Опубликовано в: :Int J Mol Sci
Главные авторы: Stirnemann, Jérôme, Belmatoug, Nadia, Camou, Fabrice, Serratrice, Christine, Froissart, Roseline, Caillaud, Catherine, Levade, Thierry, Astudillo, Leonardo, Serratrice, Jacques, Brassier, Anaïs, Rose, Christian, Billette de Villemeur, Thierry, Berger, Marc G.
Формат: Artigo
Язык:Inglês
Опубликовано: MDPI 2017
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Review
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5343975/
https://ncbi.nlm.nih.gov/pubmed/28218669
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms18020441
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