Blar i Department of Global Public Health and Primary Care på tidsskrift "Orphanet Journal of Rare Diseases"

Viser treff 1-7 av 7

    • Establishing a network of specialist Porphyria centres - effects on diagnostic activities and services 

      Tollånes, Mette Christophersen; Aarsand, Aasne K.; Villanger, Jørild Haugen; Støle, Egil; Deybach, Jean-Charles; Marsden, Joanne; To-Figueras, Jordi; Sandberg, Sverre; European Porphyria Network (Peer reviewed; Journal article, 2012-12-10)
      Background: The porphyrias are a heterogeneous group of rare metabolic diseases. The full spectrum of porphyria diagnostics is usually performed by specialized porphyria laboratories or centres. The European Porphyria ...

    • European Porphyria Network (EPNET) for information, epidemiological data, quality and equity of service 

      Deybach, Jean-Charles; Parker, Samantha; Badmiton, Mike; Sandberg, Sverre (Conference poster, 2010-10-19)

    • Holt Oram syndrome: a registry-based study in Europe 

      Barisic, Ingeborg; Boban, Ljubica; Greenlees, Ruth; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Addor, Marie-Claude; Arriola, Larraitz; Bergman, Jorieke E. H.; Braz, Paula; Budd, Judith L. S.; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Klungsøyr, Kari; McDonnell, Bob; Nelen, Vera; Pierini, Anna; Queisser-Wahrendorf, Annette; Rankin, Judith; Rissmann, Anke; Rounding, Catherine; Tucker, David; Verellen-Dumoulin, Christine; Dolk, Helen (Peer reviewed; Journal article, 2014-10-25)
      Background: Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects. We present epidemiological and clinical aspects of HOS patients using data from ...

    • 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 ...

    • Porphyria cutanea tarda increases risk of hepatocellular carcinoma and premature death: A nationwide cohort study 

      Baravelli, Carl Michael; Sandberg, Sverre; Aarsand, Aasne Karine; Tollånes, Mette Christophersen (Peer reviewed; Journal article, 2019-04-03)
      Background Porphyria cutanea tarda (PCT) is a skin disorder originating from a deficit of the liver enzyme uroporphyrinogen decarboxylase. PCT may be a risk factor for hepatocellular carcinoma (HCC) and other cancers, but ...

    • 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 ...