Blar i University of Bergen Library på tidsskrift "Orphanet Journal of Rare Diseases"

Viser treff 1-4 av 4

    • Porphyria cutanea tarda and patterns of long-term sick leave and disability pension: a 24-year nationwide matched-cohort study 

      Baravelli, Carl Michael; Aarsand, Aasne Karine; Sandberg, Sverre; Tollånes, Mette Christophersen (Journal article; Peer reviewed, 2022)
      Background Porphyria cutanea tarda (PCT) is a skin disorder caused by a defect in the liver enzyme uroporphyrinogen decarboxylase and is associated with hepatitis C virus infection, high alcohol intake, smoking and iron ...

    • 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, ...

    • Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study 

      Baravelli, Carl Michael; Aarsand, Aasne Karine; Sandberg, Sverre; Tollånes, Mette Christophersen (Journal article; Peer reviewed, 2020)
      Background: Acute hepatic porphyria (AHP) consists of three rare metabolic disorders. We investigated the risk of long-term sick leave, disability pension, and premature death in individuals with AHP compared to the general ...

    • Survival of children with rare structural congenital anomalies: a multi-registry cohort study 

      Coi, Alessio; Santoro, Michele; Pierini, Anna; Rankin, Judith; Glinianaia, Svetlana V.; Tan, Joachim; Reid, Abigail-Kate; Garne, Ester; Loane, Maria; Given, Joanne; Ballardini, Elisa; Cavero-Carbonell, Clara; de Walle, Hermien E.K.; Gatt, Miriam; García-Villodre, Laura; Gissler, Mika; Jordan, Sue; Kiuru-Kuhlefelt, Sonja; Kjaer Urhoj, Stine; Klungsøyr, Kari; Lelong, Nathalie; Lutke, L. Renée; Neville, Amanda J.; Rahshenas, Makan; Scanlon, Ieuan; Wellesley, Diana; Morris, Joan K. (Journal article; Peer reviewed, 2022)
      Background Congenital anomalies are the leading cause of perinatal, neonatal and infant mortality in developed countries. Large long-term follow-up studies investigating survival beyond the first year of life in children ...