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Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by loss of function mutations in the GLA gene at Xq22 with subsequent functional deficiency of alpha-galactosidase A, resulting in the accumulation of globotriaosylceramide (GL-3 or Gb(3)) in multiple cells types throughout the body...

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Detalles Bibliográficos
Autores principales: Thurberg, Beth L., Germain, Dominique P., Perretta, Fernando, Jurca-Simina, Iulia E., Politei, Juan M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5470937/
https://www.ncbi.nlm.nih.gov/pubmed/28649509
http://dx.doi.org/10.1016/j.ymgmr.2016.09.005