Erle Kristensen

PhD Candidate

E-mailErle.Kristensen@uib.no
Visitor Address
Haukeland Universitetssykehus Laboratoriebygget, 7. etg. Heis øst

5009 Bergen
Postal Address
Postboks 7804

5020 Bergen

Academic article

Show author(s) (2024). Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study. Frontiers in Neurology.

Show author(s) (2023). Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway. International Journal of Neonatal Screening (IJNS). 1-11.
Show author(s) (2023). The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study. Epilepsy Research.
Show author(s) (2023). Fasting and non-fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease. The Journal of Inherited Metabolic Disease (JIMD). 360-366.
Show author(s) (2023). Adult presentation of ornithine transcarbamylase deficiency: a possible cause of hyperammonemia after high-dose chemotherapy and stem cell transplantation. Hematology.

Show author(s) (2022). Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency. International Journal of Molecular Sciences. 13 pages.

Show author(s) (2021). A pioneer study on human 3-nitropropionic acid intoxication: Contributions from metabolomics. Journal of Applied Toxicology. 1-12.

Show author(s) (2020). Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses. International Journal of Neonatal Screening (IJNS). 25 pages.
Show author(s) (2020). Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency. The Journal of Inherited Metabolic Disease (JIMD). 178-192.

Show author(s) (2017). Varicella-Related Primary Healthcare Visits, Hospitalizations and Mortality in Norway, 2008-2014. The Pediatric Infectious Disease Journal. 1032-1038.

Errata

Show author(s) (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)). Epilepsy Research.

Article in business/trade/industry journal

Show author(s) (2022). Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency. JIMD Reports. 193-198.