Browsing University of Bergen Library by Journals "Orphanet Journal of Rare Diseases"
Now showing items 1-4 of 4
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Porphyria cutanea tarda and patterns of long-term sick leave and disability pension: a 24-year nationwide matched-cohort study
(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
(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
(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
(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 ...