Blar i Bergen Open Research Archive på emneord "Fabry disease"

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    • Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document 

      Biegstraaten, Marieke; Arngrímsson, R; Barbey, F; Boks, L; Cecchi, Franco; Deegan, PB; Feldt-Rasmussen, Ulla; Geberhiwot, T; Germain, DP; Hendriksz, C; Hughes, DA; Kantola, I; Karabul, N; Lavery, C; Linthorst, GE; Mehta, A; van de Mheen, E; Oliveira, JP; Parini, R; Ramaswami, Uma; Rudnicki, M; Serra, A; Sommer, Claudia; Sunder-Plassmann, G; Svarstad, Einar; Sweeb, A; Terryn, W; Tylki-Szymanska, A; Tøndel, Camilla; Vujkovac, B; Weidemann, Frank; Wijburg, FA; Woolfson, P; Hollak, CE. (Peer reviewed; Journal article, 2015-05-27)
      Introduction Fabry disease (FD) is a lysosomal storage disorder resulting in progressive nervous system, kidney and heart disease. Enzyme replacement therapy (ERT) may halt or attenuate disease progression. Since administration ...