Browsing Bergen Open Research Archive by Author "Kristensen, Erle"

Now showing items 1-4 of 4

    • Adult presentation of ornithine transcarbamylase deficiency: a possible cause of hyperammonemia after high-dose chemotherapy and stem cell transplantation 

      Tsykunova, Galina; Kristensen, Erle; Stray-Pedersen, Asbjørg; Bruserud, Øyvind; Sørensen, Ida Wiig; Bruserud, Øystein; Tvedt, Tor Henrik Anderson (Journal article; Peer reviewed, 2023)
      Hyperammonemia is a rare and often fatal complication following the conditioning therapy in autologous and allogeneic stem cell transplant recipients. It is characterized by anorexia, vomiting, lethargy and coma without ...

    • Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study 

      Kristensen, Erle; Mathisen, Linda; Berland, Siren; Klingenberg, Claus Andreas; Brodtkorb, Eylert; Rasmussen, Magnhild; Tangeraas, Trine; Bliksrud, Yngve Thomas; Rahman, Shamima; Bindoff, Laurence Albert; Hikmat, Omar (Journal article; Peer reviewed, 2024)
      Objective To investigate the prevalence and natural history of POLG disease in the Norwegian population. Methods A national, population-based, retrospective study using demographic, clinical, and genetic data of ...

    • Refractory and super-refractory status epilepticus in children and adolescents: A population-based study 

      Hepsø, Seline Winsnes; Lee, Maya; Noszka, Kristoffer; Wollertsen, Yvonne; Holmaas, Gunhild; Kristensen, Erle; Eichele, Tom; Bjørk, Marte-Helene; Griffiths, Silja Torvik; Hikmat, Omar (Journal article; Peer reviewed, 2024)
      Purpose Refractory (RSE) and super-refractory status epilepticus (SRSE) are serious medical emergencies whose long-term outcomes depend on the timeliness of their management. Population-based clinical and epidemiological ...

    • Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway 

      Tangeraas, Trine; Ljungblad, Ulf Wike; Lutvica, Elma; Kristensen, Erle; Rowe, Alexander D.; Monsen, Anne-Lise Bjørke; Rootwelt-Revheim, Terje; Sæves, Ingjerd; Pettersen, Rolf Dagfinn (Journal article; Peer reviewed, 2023)
      Untreated vitamin B12 (B12) deficiency may cause delayed development in infants. Several newborn screening (NBS) programs have reported an increased detection rate of B12 deficiency when second-tier dried blood spot (DBS) ...