Publications 2021

Wintjes LTM, Kava M, van den Brandt FA, van den Brand MAM, Lapina O, Bliksrud YT, Kulseth MA, Amundsen SS, Selberg TR, Ybema-Antoine M, Tutakhel OAZ, Greed L, Thorburn DR, Tangeraas T, Balasubramaniam S, Rodenburg RJT (2021)
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction
Hum. Mutat., 42 (2), 135-141
DOI 10.1002/humu.24137

Publications 2020

Barone H, Bliksrud YT, Elgen IB, Szigetvari PD, Kleppe R, Ghorbani S, Hansen EV, Haavik J (2020)
Tyrosinemia Type 1 and symptoms of ADHD: Biochemical mechanisms and implications for treatment and prognosis
Am. J. Med. Genet. B, 183 (2), 95-105
DOI 10.1002/ajmg.b.32764

Tangeraas T, Saeves I, Klingenberg C, Jorgensen J, Kristensen E, Gunnarsdottir G, Hansen EV, Strand J, Lundman E, Ferdinandusse S, Salvador CL, Woldseth B, Bliksrud YT, Sagredo C, Olsen OE, Berge MC, Tromborg AK, Ziegler A, Zhang JH, Sorgjerd LK, Ytre-Arne M, Hogner S, Lovoll SM, Olavsen MKR, 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

Publications 2019

Pedersen S, Bliksrud YT, Selmer KK, Ramm-Pettersen A (2019)
Pyruvate dehydrogenase deficiency
Tidsskr. Nor. Laegeforen., 139 (15), 1473-1476

Publications 2018

Bliksrud YT (2018)
Chronic fatigue syndrome and pyruvate dehydrogenase function Reply
Tidsskr. Nor. Laegeforen., 138 (1), 13-14

Publications 2017

Bliksrud YT (2017)
Weak link between chronic fatigue syndrome and pyruvate dehydrogenase deficiency
Tidsskr. Nor. Laegeforen., 137 (23-24), 1870-1871

Mosegaard S, Bruun GH, Flyvbjerg KF, Bliksrud YT, Gregersen N, Dembic M, Annexstad E, Tangeraas T, Olsen RKJ, Andresen BS (2017)
An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
Mol. Genet. Metab., 122 (4), 182-188
DOI 10.1016/j.ymgme.2017.10.014

Publications 2016

Baroy T, Pedurupillay CRJ, Bliksrud YT, Rasmussen M, Holmgren A, Vigeland MD, Hughes T, Brink M, Rodenburg R, Nedregaard B, Stromme P, Frengen E, Misceo D (2016)
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13
Eur. J. Med. Genet., 59 (6-7), 342-346
DOI 10.1016/j.ejmg.2016.05.005

Bremer S, Bliksrud YT, Rootwelt H, Woldseth B, Tangeraas T, Saeves I, Watle SSV (2016)
Identification of a novel BCKDHA deletion causing maple syrup urine disease
Meta Gene, 10, 86-89
DOI 10.1016/j.mgene.2016.02.004

Publications 2014

Mayorandan S, Meyer U, Gokcay G, Segarra NG, de Baulny HO, van Spronsen F, Zeman J, de Laet C, Spiekerkoetter U, Thimm E, Maiorana A, Dionisi-Vici C, Moeslinger D, Brunner-Krainz M, Lotz-Havla AS, de Juan JAC, Pico MLC, Santer R, Scholl-Buergi S, Mandel H, Bliksrud YT, Freisinger P, Aldamiz-Echevarria LJ, Hochuli M, Gautschi M et al. (2014)
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice
Orphanet J. Rare Dis., 9, 107
DOI 10.1186/s13023-014-0107-7

Publications 2013

Bliksrud YT, Ellingsen A, Bjoras M (2013)
Fumarylacetoacetate inhibits the initial step of the base excision repair pathway: implication for the pathogenesis of tyrosinemia type I
J. Inherit. Metab. Dis., 36 (5), 773-778
DOI 10.1007/s10545-012-9556-0

Publications 2012

Bliksrud YT, Brodtkorb E, Backe PH, Woldseth B, Rootwelt H (2012)
Hereditary tyrosinaemia type I in Norway: Incidence and three novel small deletions in the fumarylacetoacetase gene
Scand. J. Clin. Lab. Invest., 72 (5), 369-373
DOI 10.3109/00365513.2012.676210

Publications 2009

Aakre K, Bliksrud Y, Froyshov B, Hager H, Hansen A, Janukonyte J, Lauterlein JJ, Lilleholt K, Lohne K, Mannisto T, Miettola S, Pelanti J, Samson M, Skauby R, Tuuti E, Zelvyte I (2009)
Validation of the Hemo_Control instrument for determination of B-haemoglobin concentration in primary health care
Scand. J. Clin. Lab. Invest., 69 (8), 817-821
DOI 10.3109/00365510903329651