Publications 2024

Kristensen E, Mathisen L, Berland S, Klingenberg C, Brodtkorb E, Rasmussen M, Tangeraas T, Bliksrud YT, Rahman S, Bindoff LA, Hikmat O (2024)
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

Westbye AB, Dizdarevic LL, Dahl SR, Asprusten EA, Bliksrud YT, Sandblom AL, Diczfalusy U, Thorsby PM, Retterstøl K (2024)
A sterol panel for rare lipid disorders: sitosterolemia, cerebrotendinous xanthomatosis, and Smith-Lemli-Opitz syndrome
J Lipid Res, 66 (1), 100698 (in press)
DOI 10.1016/j.jlr.2024.100698, PubMed 39566847

Publications 2023

Barone H, Elgen IB, Bliksrud YT, Vangsøy Hansen E, Skavhellen RR, Furevik MI, Haavik J (2023)
Case report: ADHD and prognosis in tyrosinemia type 1
Front Psychiatry, 14, 1213590
DOI 10.3389/fpsyt.2023.1213590, PubMed 37533886

Salvador CL, Flemmen PTK, Tøndel C, Bliksrud YT, Tsui EFF, Brun A, Bjerre A, Mørkrid L (2023)
Renal function, sex and age influence purines and pyrimidines in urine and could lead to diagnostic misinterpretation
Mol Genet Metab, 140 (3), 107649
DOI 10.1016/j.ymgme.2023.107649, PubMed 37517327

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

Publications 2022

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

Publications 2020

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

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 (2020)
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, PubMed 33169484

Publications 2019

Barone H, Bliksrud YT, Elgen IB, Szigetvari PD, Kleppe R, Ghorbani S, Hansen EV, Haavik J (2019)
Tyrosinemia Type 1 and symptoms of ADHD: Biochemical mechanisms and implications for treatment and prognosis
Am J Med Genet B Neuropsychiatr Genet, 183 (2), 95-105
DOI 10.1002/ajmg.b.32764, PubMed 31633311

Pedersen S, Bliksrud YT, Selmer KK, Ramm-Pettersen A (2019)
[Pyruvate dehydrogenase deficiency]
Tidsskr Nor Laegeforen, 139 (15)
DOI 10.4045/tidsskr.18.0988, PubMed 31642628

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)
[Not Available]
Tidsskr Nor Laegeforen, 138 (1)
DOI 10.4045/tidsskr.17.1087, PubMed 29313609

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

Publications 2017

Bliksrud YT (2017)
Tenuous link between chronic fatigue syndrome and pyruvate dehydrogenase deficiency
Tidsskr Nor Laegeforen, 137 (23-24)
DOI 10.4045/tidsskr.17.0948, PubMed 29231630

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, PubMed 29122468

Publications 2016

Barøy T, Pedurupillay CR, Bliksrud YT, Rasmussen M, Holmgren A, Vigeland MD, Hughes T, Brink M, Rodenburg R, Nedregaard B, Strømme 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), 342-6
DOI 10.1016/j.ejmg.2016.05.005, PubMed 27182039

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, Cocho de Juan JA, Couce Pico ML, Santer R, Scholl-Bürgi 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, PubMed 25081276

Publications 2013

Stølen LH, Lilje R, Jørgensen JV, Bliksrud YT, Almaas R (2013)
High dietary folic Acid and high plasma folate in children and adults with phenylketonuria
JIMD Rep, 13, 83-90
DOI 10.1007/8904_2013_260, PubMed 24136656

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), 369-73
DOI 10.3109/00365513.2012.676210, PubMed 22554029

Bliksrud YT, Ellingsen A, Bjørås M (2012)
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), 773-8
DOI 10.1007/s10545-012-9556-0, PubMed 23138988

Publications 2009

Aakre K, Bliksrud Y, Frøyshov B, Hager H, Hansen A, Janukonyte J, Lauterlein JJ, Lilleholt K, Løhne K, Männistö 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), 817-21
DOI 10.3109/00365510903329651, PubMed 20001335

Publications 2005

Bliksrud YT, Brodtkorb E, Andresen PA, van den Berg IE, Kvittingen EA (2005)
Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect
J Mol Med (Berl), 83 (5), 406-10
DOI 10.1007/s00109-005-0648-2, PubMed 15759101