• 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 object, 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 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 ...