Yngve Thomas Bliksrud
- Chief Consultant; MD, PhD
- +47 230 74 113
Education
Affiliation
Research Summary
Work Experience
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Publications 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
Publications 2023
Case report: ADHD and prognosis in tyrosinemia type 1
Front Psychiatry, 14, 1213590
DOI 10.3389/fpsyt.2023.1213590, PubMed 37533886
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
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
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
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
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
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
[Pyruvate dehydrogenase deficiency]
Tidsskr Nor Laegeforen, 139 (15)
DOI 10.4045/tidsskr.18.0988, PubMed 31642628
Pyruvate dehydrogenase deficiency
Tidsskr. Nor. Laegeforen., 139 (15), 1473-1476
Publications 2018
[Not Available]
Tidsskr Nor Laegeforen, 138 (1)
DOI 10.4045/tidsskr.17.1087, PubMed 29313609
Chronic fatigue syndrome and pyruvate dehydrogenase function Reply
Tidsskr. Nor. Laegeforen., 138 (1), 13-14
Publications 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
Weak link between chronic fatigue syndrome and pyruvate dehydrogenase deficiency
Tidsskr. Nor. Laegeforen., 137 (23-24), 1870-1871
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
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
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
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
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
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
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
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
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