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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...
Autores principales: | Thurberg, Beth L., Germain, Dominique P., Perretta, Fernando, Jurca-Simina, Iulia E., Politei, Juan M. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2016
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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 |
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