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Y. Bliksrud · SciRah

Researcher profile · Semantic Scholar

Y. Bliksrud

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Y. Bliksrud — researcher profile on SciRah

h-index: 10
Works: 23
Citations: 412

Most-cited papers

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice
Sebene Mayorandan, U. Meyer, G. Gokçay, N. G. Segarra +29 more
2014Orphanet Journal of Rare Diseases126 citations Open access
Semantic Scholar
An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
S. Mosegaard, G. H. Bruun, Karen Freund Flyvbjerg, Y. Bliksrud +6 more
2017Molecular Genetics and Metabolism57 citations
Semantic Scholar
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses
Trine Tangeraas, Ingjerd Sæves, C. Klingenberg, Jens Jørgensen +29 more
2020International Journal of Neonatal Screening39 citations Open access
Semantic Scholar
Tyrosinaemia type I—de novo mutation in liver tissue suppressing an inborn splicing defect
Y. Bliksrud, E. Brodtkorb, P. A. Andresen, I. van den Berg +1 more
2005Journal of molecular medicine37 citations
Semantic Scholar
Tyrosinemia Type 1 and symptoms of ADHD: Biochemical mechanisms and implications for treatment and prognosis
Helene Barone, Y. Bliksrud, I. Elgen, Peter D Szigetvari +4 more
2020American Journal of Medical Genetics Part B: Neuropsychiatric Genetics25 citations Open access
Semantic Scholar
Hereditary tyrosinaemia type I in Norway: Incidence and three novel small deletions in the fumarylacetoacetase gene
Y. Bliksrud, E. Brodtkorb, P. H. Backe, B. Woldseth +1 more
2012Scandinavian Journal of Clinical and Laboratory Investigation22 citations Open access
Semantic Scholar
Fumarylacetoacetate inhibits the initial step of the base excision repair pathway: implication for the pathogenesis of tyrosinemia type I
Y. Bliksrud, A. Ellingsen, M. Bjørås
2013Journal of Inherited Metabolic Disease21 citations Open access
Semantic Scholar
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.
Tuva Barøy, C. R. Pedurupillay, Y. Bliksrud, M. Rasmussen +9 more
2016European Journal of Medical Genetics19 citations
Semantic Scholar
A sterol panel for rare lipid disorders: sitosterolemia, cerebrotendinous xanthomatosis, and Smith-Lemli-Opitz syndrome
A. Westbye, Lili L. Dizdarevic, Sandra R. Dahl, E. Asprusten +5 more
2024Journal of Lipid Research11 citations Open access
Semantic Scholar
High dietary folic Acid and high plasma folate in children and adults with phenylketonuria.
L. H. Stølen, R. Lilje, J. V. Jørgensen, Y. Bliksrud +1 more
2014JIMD Reports11 citations Open access
Semantic Scholar
Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study
E. Kristensen, Linda Mathisen, S. Berland, C. Klingenberg +7 more
2024Annals of Clinical and Translational Neurology7 citations Open access
Semantic Scholar
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.
Trine Tangeraas, Ingjerd Sæves, C. Klingenberg, Jens Jørgensen +29 more
2020International Journal of Neonatal Screening7 citations Open access
Semantic Scholar
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction
L. Wintjes, M. Kava, F. V. D. van den Brandt, M. V. D. van den Brand +12 more
2020Human Mutation7 citations Open access
Semantic Scholar
Renal function, sex and age influence purines and pyrimidines in urine and could lead to diagnostic misinterpretation.
C. Salvador, Per Trygge Kjelland Flemmen, C. Tøndel, Y. Bliksrud +4 more
2023Molecular Genetics and Metabolism5 citations Open access
Semantic Scholar
Case report: ADHD and prognosis in tyrosinemia type 1
Helene Barone, I. Elgen, Y. Bliksrud, Eirik Vangsøy Hansen +3 more
2023Frontiers in Psychiatry5 citations Open access
Semantic Scholar
Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency
K. Ørstavik, K. Arntzen, P. Mathisen, P. H. Backe +6 more
2022JIMD Reports4 citations Open access
Semantic Scholar
Validation of the Hemo_Control instrument for determination of B-haemoglobin concentration in primary health care
K. Aakre, Y. Bliksrud, B. Frøyshov, H. Hager +12 more
2009Scandinavian Journal of Clinical and Laboratory Investigation4 citations
Semantic Scholar
Identification of a novel BCKDHA deletion causing maple syrup urine disease
S. Bremer, Y. Bliksrud, H. Rootwelt, B. Woldseth +3 more
20163 citations Open access
Semantic Scholar
Fasting and non‐fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease
Trine Tangeraas, E. Kristensen, L. Mørkrid, E. Elind +2 more
2023JIMD Reports2 citations Open access
Semantic Scholar
Identification of determinants for variability in mitochondrial biochemical complex activities.
Sandra Monica Bach de Courtade, Marte Eikenes, Ying Sheng, T. Nyman +3 more
2025Biochimica et Biophysica Acta - Bioenergetics0 citations Open access
Semantic Scholar
COX16 deficiency causes a novel mitochondrial disorder with lethal infantile presentation and complex IV deficiency
S. Balasubramaniam, L. Wintjes, M. Kava, F. V. D. van den Brandt +5 more
2022Pathology (Sydney)0 citations Open access
Semantic Scholar
Tenuous link between chronic fatigue syndrome and pyruvate dehydrogenase deficiency.
Y. Bliksrud
2017Tidsskrift for Den Norske Laegeforening0 citations Open access
Semantic Scholar
Hereditary tyrosinaemia type I : Studies on the molecular genetics and DNA repair enzymes
Y. Bliksrud
20120 citations
Semantic Scholar

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