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Browsing by Subject "Enfermedades raras"

Now showing items 1-4 of 4

    • Análisis de la evolución en el acceso a los medicamentos huérfanos en España 

      Mestre-Ferrándiz, Jorge; Iniesta, Margarita; Trapero Bertran, Marta; Espín Balbino, Jaime; Brosa Riestra, Max (Gaceta Sanitaria, 2020)
      Objetivo: Evaluar el acceso al mercado de los medicamentos huérfanos en España que a fecha de 31 de diciembre de 2017 tuvieran vigente su designación, y para aquellos comercializados en España estimar ...

    • Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis 

      Giroud Gerbetant, Judith; Sotillo, Fernando; Hernández, Gonzalo; Ruano, Irene; Sebastián, David; Fort, Joana; Sanchez-Fernandez, Mayka; Weiss, Günter; Prats, Neus; Zorzano, Antonio; Palacín, Manuel; Bodoy, Susanna (Molecular Medicine, 2025)
      Background: Lysinuric protein intolerance is a rare autosomal disorder caused by mutations in the Slc7a7 gene that lead to impaired transport of neutral and basic amino acids. The gold standard treatment ...

    • Gender differences in hereditary hemorrhagic telangiectasia severity 

      Mora-Luján, José María; Iriarte, Adriana; Alba, E.; Sánchez-Corral, M. A.; Cerdà, Pau; Cruellas, F.; Ordi, Q.; Corbella Virós, Xavier; Ribas, Jesús; Castellote, J.; Riera-Mestre, Antoni (Orphanet Journal of Rare Diseases, 2020)
      Background: Gender differences in organ involvement and clinical severity have been poorly described in hereditary hemorrhagic telangiectasia (HHT). The aim of this study was to describe differences in ...

    • Strategic discussion on funding and access to therapies targeting rare diseases in Spain: an expert consensus paper 

      Zozaya, N.; Villaseca, J.; Abdalla, F.; Ancochea, A.; Málaga, I.; Trapero-Bertran, Marta; Martín-Sobrino, N.; Delgado, O.; Ferré, P.; Hidalgo-Vega, A. (Orphanet Journal of Rare Diseases, 2023)
      Background: In recent years, significant advances have been made in the field of rare diseases (RDs). However, there is a large number of RDs without specific treatment and half of these treatments have ...