Yngve T. Bliksrud

Oslo, Norway

Last Updated: 09/26/2026

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Found 19 publications

Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care.

Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care.

Journal: Journal of inherited metabolic disease

Published: June 19, 2025

Identification of determinants for variability in mitochondrial biochemical complex activities.

Identification of determinants for variability in mitochondrial biochemical complex activities.

Journal: Biochimica et biophysica acta. Bioenergetics

Published: September 26, 2024

A sterol panel for rare lipid disorders: sitosterolemia, cerebrotendinous xanthomatosis and Smith-Lemli-Opitz syndrome.

A sterol panel for rare lipid disorders: sitosterolemia, cerebrotendinous xanthomatosis and Smith-Lemli-Opitz syndrome.

Journal: Journal of lipid research

Published: September 18, 2024

Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study.

Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study.

Journal: Annals of clinical and translational neurology

Published: February 06, 2024

Fasting and non-fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease.

Fasting and non-fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease.

Journal: JIMD reports

Published: May 20, 2023

Case report: ADHD and prognosis in tyrosinemia type 1.

Case report: ADHD and prognosis in tyrosinemia type 1.

Journal: Frontiers in psychiatry

Published: April 28, 2023

Renal function, sex and age influence purines and pyrimidines in urine and could lead to diagnostic misinterpretation.

Renal function, sex and age influence purines and pyrimidines in urine and could lead to diagnostic misinterpretation.

Journal: Molecular genetics and metabolism

Published: December 05, 2022

Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency.

Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency.

Journal: JIMD reports

Published: December 19, 2021

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

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

Journal: Human mutation

Published: July 16, 2020

Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.

Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.

Journal: International journal of neonatal screening

Published: May 15, 2020

Pyruvate dehydrogenase deficiency.

Pyruvate dehydrogenase deficiency.

Journal: Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke

Published: October 24, 2019

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

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

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Published: April 30, 2019

Showing 1-12 of 19

Last Updated: 09/26/2026