Now showing items 1-2 of 2

    • 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, José Vicente (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 ...
    • Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy 

      Goicoechea, Marian; Gómez Preciado, Francisco; Benito, Silvia; Torras Ambros, Joan; Torra, Roser; Huerta, Ana; Restrepo, Alejandra; Ugalde, Jessica; Astudillo, Daniela Estefania; Agraz, Irene; López Mendoza, Manuel; de Arriba, Gabriel; Corchete, Elena; Quiroga, Borja; Gutiérrez, Maria Jose; Martín Conde, María Luisa; Lopes, Vanessa; Carmela Ramos; Mendez, Irene; Cao, Mercedes; Domínguez, Fernando; Ortiz, Alberto (Sociedad Española de Nefrología; Elsevier, 2021)
      Fabry disease may be treated by enzyme replacement therapy (ERT), but the impact of chronic kidney disease (CKD) on the response to therapy remains unclear. The aim of the present study was to analyse the incidence and ...