Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response

Gaucher disease, caused by a deficiency of the lysosomal enzyme glucocerebrosidase, leads to prominent glucosylceramide accumulation in lysosomes of tissue macrophages (Gaucher cells). Here we show glucosylsphingosine, the deacylated form of glucosylceramide, to be markedly increased in plasma of sy...

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Main Authors: Dekker, Nick, van Dussen, Laura, Hollak, Carla E. M., Overkleeft, Herman, Scheij, Saskia, Ghauharali, Karen, van Breemen, Mariëlle J., Ferraz, Maria J., Groener, Johanna E. M., Maas, Mario, Wijburg, Frits A., Speijer, Dave, Tylki-Szymanska, Anna, Mistry, Pramod K., Boot, Rolf G., Aerts, Johannes M.
Format: Artigo
Sprog:Inglês
Udgivet: American Society of Hematology 2011
Fag:
Phagocytes, Granulocytes, and Myelopoiesis
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3685900/
https://ncbi.nlm.nih.gov/pubmed/21868580
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2011-05-352971
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