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    • Fabry nephropathy: an evidence-based narrative review 

      Pino, María Dolores del; Andrés, Amado; Ávila Bernabéu, Ana; Juan-Rivera, Joaquín de; Fernández i Giráldez, Elvira; García Díaz, Juan de Dios; Hernández, Domingo; Luño, José; Martínez Fernández, Isabel; Paniagua, José; Torra, Roser; Torras Ambros, Joan; Vidau, Pedro; Torregrosa, Josep-Vicent (Karger Publishers Open Access, 2018)
      Fabry disease (FD) is a rare, X-linked disorder caused by mutations in the GLA gene encoding the enzyme α-galactosidase A. Complete or partial deficiency in this enzyme leads to intracellular accumulation of globotriaosylceramide ...