Yngve Thomas Bliksrud
- Chief Consultant; MD, PhD
- +47 230 74 113
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Affiliation
Research Summary
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Publications 2021
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
Publications 2020
Tyrosinemia Type 1 and symptoms of ADHD: Biochemical mechanisms and implications for treatment and prognosis
Am. J. Med. Genet. B, 183 (2), 95-105
DOI 10.1002/ajmg.b.32764
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
Publications 2019
Pyruvate dehydrogenase deficiency
Tidsskr. Nor. Laegeforen., 139 (15), 1473-1476
Publications 2018
Chronic fatigue syndrome and pyruvate dehydrogenase function Reply
Tidsskr. Nor. Laegeforen., 138 (1), 13-14
Publications 2017
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
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), 342-346
DOI 10.1016/j.ejmg.2016.05.005
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
Publications 2013
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), 773-778
DOI 10.1007/s10545-012-9556-0
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), 369-373
DOI 10.3109/00365513.2012.676210
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), 817-821
DOI 10.3109/00365510903329651