Erle Kristensen
- Chief Consultant; MD
- +47 230 71 002
Education
- 2022-to date: PhD candidate, University of Bergen, Norway
- 2000-2006: MD, University of Bergen, Norway
Affiliation
- Metabolomics & Metabolic Molecular Biology Group, Department of Medical Biochemistry, Oslo University Hospital - Rikshospitalet, Norway
- Mitochondrial Medicine & Neurogenetics group, University of Bergen, Norway
Research Summary
Dr. Kristensen is currently a PhD candidate studying POLG disease. Using data from a large Norwegian and European cohort of POLG patients, her main objectives are to describe the natural history and epidemiology of POLG disease and to investigate possible relationships between genotype and phenotypic expression. She also has a particular interest in pyridoxine (vitamin B6) and pyridoxine-responsive epilepsy and is a member of the international PDE Consortium.
Work Experience
- September 2020-to date, and January 2019-December 2019: Senior consultant, Norwegian National Unit for Screening and Diagnostics of Congenital Pediatric Metabolic Disorders, Oslo University Hospital, Norway
- January 2020-September 2020, and January 2017-December 2018: Senior consultant Norwegian National Unit for Newborn Screening, Oslo University Hospital, Norway
- June 2015-December 2016: Fellow in pediatrics, Department of pediatrics and adolescent medicine, Akershus University Hospital, Norway
- February 2009-June 2015: Fellow in pediatrics, Department of pediatrics, Hospital of Bodø, Norway
Links
NB: Check out our NEWS PAGE for the latest!
Publications 2024
Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study
Front Neurol, 15, 1355861
DOI 10.3389/fneur.2024.1355861, PubMed 38419708
Refractory and super-refractory status epilepticus in children and adolescents: A population-based study
Seizure, 120, 116-123
DOI 10.1016/j.seizure.2024.06.023, PubMed 38941802
Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study
Ann Clin Transl Neurol, 11 (7), 1819-1830
DOI 10.1002/acn3.52088, PubMed 38845467
Publications 2023
The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study
Epilepsy Res, 190, 107099
DOI 10.1016/j.eplepsyres.2023.107099, PubMed 36731270
Corrigendum to "The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study" [Epilepsy Res. 190 (2023) 107099]
Epilepsy Res, 198, 107113
DOI 10.1016/j.eplepsyres.2023.107113, PubMed 36906427
Fasting and non-fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease
JIMD Rep, 64 (5), 360-366
DOI 10.1002/jmd2.12380, PubMed 37701324
Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway
Int J Neonatal Screen, 9 (1)
DOI 10.3390/ijns9010003, PubMed 36648770
Adult presentation of ornithine transcarbamylase deficiency: a possible cause of hyperammonemia after high-dose chemotherapy and stem cell transplantation
Hematology, 28 (1), 2265187
DOI 10.1080/16078454.2023.2265187, PubMed 38078487
Publications 2022
Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency
Int J Mol Sci, 23 (24)
DOI 10.3390/ijms232416061, PubMed 36555701
Phenotypic expansion of ARSK-related mucopolysaccharidosis
Am J Med Genet A, 188 (11), 3369-3373
DOI 10.1002/ajmg.a.62934, PubMed 35959767
Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency
JIMD Rep, 63 (3), 193-198
DOI 10.1002/jmd2.12276, PubMed 35433169
Publications 2021
A pioneer study on human 3-nitropropionic acid intoxication: Contributions from metabolomics
J Appl Toxicol, 42 (5), 818-829
DOI 10.1002/jat.4259, PubMed 34725838
Publications 2020
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency
J Inherit Metab Dis, 44 (1), 178-192
DOI 10.1002/jimd.12332, PubMed 33200442
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses
Int J Neonatal Screen, 6 (3), 51
DOI 10.3390/ijns6030051, PubMed 33123633
Publications 2017
Varicella-related Primary Health-care Visits, Hospitalizations and Mortality in Norway, 2008-2014
Pediatr Infect Dis J, 36 (11), 1032-1038
DOI 10.1097/INF.0000000000001656, PubMed 28657969