Blar i Department of Clinical Science på tidsskrift "Orphanet Journal of Rare Diseases"

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    • Safety and efficacy of pegunigalsidase alfa in patients with Fabry disease who were previously treated with agalsidase alfa: results from BRIDGE, a phase 3 open-label study 

      Linhart, Aleš; Dostalova, Gabriela; Nicholls, Kathy; West, Michael; Tøndel, Camilla; Jovanovic, Ana; Giraldo, Pilar; Vujkovac, Bojan; Geberhiwot, T; Brill-Almon, Einat; Alon, Sari; Chertkoff, Raul; Rocco, Rossana; Hughes, Derralynn A. (Journal article; Peer reviewed, 2023)
      Background Pegunigalsidase alfa is a novel, PEGylated α-galactosidase-A enzyme-replacement therapy approved in the EU and US to treat patients with Fabry disease (FD). Objective/methods BRIDGE is a phase 3 open-label, ...

    • STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity 

      Heimdal, Ketil; Sanchez-Guixé, Monica; Aukrust, Ingvild; Bollerslev, Jens; Bruland, Ove; Jablonski, Greg Eigner; Erichsen, Anne Kjersti; Gude, Einar; Koht, Jeanette A.; Erdal, Sigrid; Fiskerstrand, Torunn; Haukanes, Bjørn Ivar; Boman, Helge; Bjørkhaug, Lise; Tallaksen, Chantal M. E.; Knappskog, Per; Johansson, Stefan (Peer reviewed; Journal article, 2014-09-26)
      Background: A subset of hereditary cerebellar ataxias is inherited as autosomal recessive traits (ARCAs). Classification of recessive ataxias due to phenotypic differences in the cerebellum and cerebellar structures is ...