Elevated globotriaosylsphingosine is a hallmark of Fabry disease

Fabry disease is an X-linked lysosomal storage disease caused by deficiency of α-galactosidase A that affects males and shows disease expression in heterozygotes. The characteristic progressive renal insufficiency, cardiac involvement, and neuropathology usually are ascribed to globotriaosylceramide...

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Autori principali: Aerts, Johannes M., Groener, Johanna E., Kuiper, Sijmen, Donker-Koopman, Wilma E., Strijland, Anneke, Ottenhoff, Roelof, van Roomen, Cindy, Mirzaian, Mina, Wijburg, Frits A., Linthorst, Gabor E., Vedder, Anouk C., Rombach, Saskia M., Cox-Brinkman, Josanne, Somerharju, Pentti, Boot, Rolf G., Hollak, Carla E., Brady, Roscoe O., Poorthuis, Ben J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 2008
Soggetti:
Biological Sciences
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2268542/
https://ncbi.nlm.nih.gov/pubmed/18287059
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0712309105
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