Blar i NTNU Open på forfatter "Kristensen, Erle"

Viser treff 1-3 av 3

    • 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 ...

    • Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency 

      Böhm, Hans-Otto; Yazdani, Mazyar; Mørk Sandås, Elise; Østeby Vassli, Anja; Kristensen, Erle; Rootwelt, Helge; Skogvold, Hanne Bendiksen; Brodtkorb, Eylert; Elgstøen, Katja B. Prestø (Peer reviewed; Journal article, 2022)
      Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive developmental and epileptic encephalopathy caused by pathogenic variants in the ALDH7A1 gene (PDE-ALDH7A1), which mainly has its onset in neonates and ...

    • The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study 

      Jamali, Ahmed; Kristensen, Erle; Tangeraas, Trine; Arntsen, Vibeke; Sikric, Alma; Kupliauskiene, Guste; Myren-Svelstad, Sverre; Berland, Siren; Sejersted, Yngve; Gerstner, Thorsten Alfons; Hassel, Bjørnar; Bindoff, Laurence Albert; Brodtkorb, Eylert August (Peer reviewed; Journal article, 2023)
      Background Pyridoxine-dependent epilepsy (PDE) is a rare seizure disorder usually presenting with neonatal seizures. Most cases are caused by biallelic pathogenic ALDH7A1variants. While anti-seizure medications are ...