Yngve Thomas Bliksrud
Position: Senior Consultant , M.D.
Phone: +47 230 74 113 / 971 41 213
Email:
 

Author network for Yngve Thomas Bliksrud by COREMINE medical


Publications 2017

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 (in press)
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
PubMed 27182039

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
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
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
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
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
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
PubMed 15759101