Academic article

• Neugebauer, Julia; Reinson, Karit; Bellusci, Marcello et al. (2024). Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey. (external link)
• Hepsø, Seline Winsnes; Lee, Maya; Noszka, Kristoffer et al. (2024). Refractory and super-refractory status epilepticus in children and adolescents: A population-based study. (external link)
• Kristensen, Erle; Mathisen, Linda; Berland, Siren et al. (2024). Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study. (external link)
• Arntsen, Vibeke; Jamali, Ahmed; SIKIRIC, ALMA et al. (2024). Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study. (external link)
• Jamali, Ahmed; Kristensen, Erle; Tangeraas, Trine et al. (2023). The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study. (external link)
• Tangeraas, Trine; Ljungblad, Ulf Wike; Lutvica, Elma et al. (2023). Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway. (external link)
• Tsykunova, Galina; Kristensen, Erle; Stray-Pedersen, Asbjørg et al. (2023). Adult presentation of ornithine transcarbamylase deficiency: a possible cause of hyperammonemia after high-dose chemotherapy and stem cell transplantation. (external link)
• Tangeraas, Trine; Kristensen, Erle; Mørkrid, Lars et al. (2023). Fasting and non-fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease. (external link)
• Böhm, Hans-Otto; Yazdani, Mazyar; Mørk Sandås, Elise et al. (2022). Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency. (external link)
• Skogvold, Hanne Bendiksen; Yazdani, Mazyar; Mørk Sandås, Elise et al. (2021). A pioneer study on human 3-nitropropionic acid intoxication: Contributions from metabolomics. (external link)
• Coughlin II, Curtis R.; Tseng, Laura A.; Abdenur, Jose E. et al. (2020). Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency. (external link)
• Tangeraas, Trine; Sæves, Ingjerd; Klingenberg, Claus et al. (2020). Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses. (external link)
• Mirinavciute, Grazina; Kristensen, Erle; Nakstad, Britt et al. (2017). Varicella-Related Primary Healthcare Visits, Hospitalizations and Mortality in Norway, 2008-2014. (external link)

Errata

• Jamali, Ahmed; Kristensen, Erle; Tangeraas, Trine et al. (2023). Corrigendum to “The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study” [Epilepsy Res. 190 (2023) 107099] (Epilepsy Research (2023) 190, (S0920121123000244), (10.1016/j.eplepsyres.2023.107099)). (external link)

Article in business/trade/industry journal

• Ørstavik, Kristin; Arntzen, Kjell Arne; Mathisen, Per et al. (2022). Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency. (external link)

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