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Fumarylacetoacetate inhibits the initial step of the base excision repair pathway: implication for the pathogenesis of tyrosinemia type I.

Bliksrud YT, Ellingsen A, Bjørås M. Bliksrud YT, et al. J Inherit Metab Dis. 2013 Sep;36(5):773-8. doi: 10.1007/s10545-012-9556-0. Epub 2012 Nov 9. J Inherit Metab Dis. 2013. PMID: 23138988

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Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect.

Bliksrud YT, Brodtkorb E, Andresen PA, van den Berg IE, Kvittingen EA. Bliksrud YT, et al. J Mol Med (Berl). 2005 May;83(5):406-10. doi: 10.1007/s00109-005-0648-2. Epub 2005 Mar 10. J Mol Med (Berl). 2005. PMID: 15759101

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Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene.

Bliksrud YT, Brodtkorb E, Backe PH, Woldseth B, Rootwelt H. Bliksrud YT, et al. Scand J Clin Lab Invest. 2012 Sep;72(5):369-73. doi: 10.3109/00365513.2012.676210. Epub 2012 May 4. Scand J Clin Lab Invest. 2012. PMID: 22554029

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Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.

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, Endig J, Jordan J, McKiernan P, Ernst S, Morlot S, Vogel A, Sander J, Das AM. Mayorandan S, et al. Among authors: bliksrud yt. Orphanet J Rare Dis. 2014 Aug 1;9:107. doi: 10.1186/s13023-014-0107-7. Orphanet J Rare Dis. 2014. PMID: 25081276 Free PMC article.

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Tyrosinemia Type 1 and symptoms of ADHD: Biochemical mechanisms and implications for treatment and prognosis.

Barone H, Bliksrud YT, Elgen IB, Szigetvari PD, Kleppe R, Ghorbani S, Hansen EV, Haavik J. Barone H, et al. Among authors: bliksrud yt. Am J Med Genet B Neuropsychiatr Genet. 2020 Mar;183(2):95-105. doi: 10.1002/ajmg.b.32764. Epub 2019 Oct 21. Am J Med Genet B Neuropsychiatr Genet. 2020. PMID: 31633311

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An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

Mosegaard S, Bruun GH, Flyvbjerg KF, Bliksrud YT, Gregersen N, Dembic M, Annexstad E, Tangeraas T, Olsen RKJ, Andresen BS. Mosegaard S, et al. Among authors: bliksrud yt. Mol Genet Metab. 2017 Dec;122(4):182-188. doi: 10.1016/j.ymgme.2017.10.014. Epub 2017 Nov 2. Mol Genet Metab. 2017. PMID: 29122468

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High dietary folic Acid and high plasma folate in children and adults with phenylketonuria.

Stølen LH, Lilje R, Jørgensen JV, Bliksrud YT, Almaas R. Stølen LH, et al. Among authors: bliksrud yt. JIMD Rep. 2014;13:83-90. doi: 10.1007/8904_2013_260. Epub 2013 Oct 18. JIMD Rep. 2014. PMID: 24136656 Free PMC article.

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Validation of the Hemo_Control instrument for determination of B-haemoglobin concentration in primary health care.

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. Aakre K, et al. Scand J Clin Lab Invest. 2009;69(8):817-21. doi: 10.3109/00365510903329651. Scand J Clin Lab Invest. 2009. PMID: 20001335

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A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

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. Barøy T, et al. Among authors: bliksrud yt. Eur J Med Genet. 2016 Jun;59(6-7):342-6. doi: 10.1016/j.ejmg.2016.05.005. Epub 2016 May 13. Eur J Med Genet. 2016. PMID: 27182039

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A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.

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. Wintjes LTM, et al. Among authors: bliksrud yt. Hum Mutat. 2021 Feb;42(2):135-141. doi: 10.1002/humu.24137. Epub 2020 Nov 30. Hum Mutat. 2021. PMID: 33169484 Free PMC article.

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