RSS feed

Publications by Erle Kristensen

13 publications found

Original articles

Arntsen V, Jamali A, Sikiric A, Kristensen E, Tangeraas T, Kupliauskiene G, Stefansdottir S, Bindoff LA, Sand T, Brodtkorb E (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

Tsykunova G, Kristensen E, Stray-Pedersen A, Bruserud Ø, Sørensen IW, Bruserud Ø, Tvedt THA (2023)
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

Tangeraas T, Kristensen E, Mørkrid L, Elind E, Bliksrud YT, Eide L (2023)
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

Jamali A, Kristensen E, Tangeraas T, Arntsen V, Sikiric A, Kupliauskiene G, Myren-Svelstad S, Berland S, Sejersted Y, Gerstner T, Hassel B, Bindoff LA, Brodtkorb E (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

Tangeraas T, Ljungblad UW, Lutvica E, Kristensen E, Rowe AD, Bjørke-Monsen AL, Rootwelt-Revheim T, Sæves I, Pettersen RD (2023)
Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway
Int J Neonatal Screen, 9 (1)
DOI 10.3390/ijns9010003, PubMed 36648770

Böhm HO, Yazdani M, Sandås EM, Østeby Vassli A, Kristensen E, Rootwelt H, Skogvold HB, Brodtkorb E, Elgstøen KBP (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

Bendiksen Skogvold H, Yazdani M, Sandås EM, Østeby Vassli A, Kristensen E, Haarr D, Rootwelt H, Elgstøen KBP (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

Coughlin CR, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL et al. (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

Tangeraas T, Sæves I, Klingenberg C, Jørgensen J, Kristensen E, Gunnarsdottir G, Hansen EV, Strand J, Lundman E, Ferdinandusse S, Salvador CL, Woldseth B, Bliksrud YT, Sagredo C, Olsen ØE, Berge MC, Trømborg AK, Ziegler A, Zhang JH, Sørgjerd LK, Ytre-Arne M, Hogner S, Løvoll SM, Kløvstad Olavsen MR, Navarrete D et al. (2020)
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

Mirinaviciute G, Kristensen E, Nakstad B, Flem E (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

Other articles

Jamali A, Kristensen E, Tangeraas T, Arntsen V, Sikiric A, Kupliauskiene G, Myren-Svelstad S, Berland S, Sejersted Y, Gerstner T, Hassel B, Bindoff LA, Brodtkorb E (2023)
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

Rustad CF, Prescott TE, Merckoll E, Kristensen E, Salvador CL, Nordgarden H, Tveten K (2022)
Phenotypic expansion of ARSK-related mucopolysaccharidosis
Am J Med Genet A, 188 (11), 3369-3373
DOI 10.1002/ajmg.a.62934, PubMed 35959767

Ørstavik K, Arntzen KA, Mathisen P, Backe PH, Tangeraas T, Rasmussen M, Kristensen E, Van Ghelue M, Jonsrud C, Bliksrud YT (2022)
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