Yngve Thomas Bliksrud

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

Sebene Mayorandan, Uta Meyer, Gülden Gökçay et al. · Orphanet Journal of Rare Diseases · 2014 · 135 citations · Full text

Medicine, Internal Medicine, Nutrition +17

An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Signe Mosegaard, Gitte Hoffmann Bruun, Karen Freund Flyvbjerg et al. · Molecular Genetics and Metabolism · 2017 · 58 citations

Life Sciences, Genetics, Molecular Genetics +11

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

Trine Tangeraas, Ingjerd Sæves, Claus Klingenberg et al. · International Journal of Neonatal Screening · 2020 · 46 citations · Full text

Medicine, Genetics, Pediatrics +17

Tyrosinaemia type I—de novo mutation in liver tissue suppressing an inborn splicing defect

Yngve Thomas Bliksrud, Else Brodtkorb, Per Arne Andresen et al. · Journal of Molecular Medicine · 2005 · 30 citations

Life Sciences, Genetics, Molecular Genetics +14

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

Helene Barone, Yngve Thomas Bliksrud, Irene Bircow Elgen et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2019 · 27 citations · Full text

Life Sciences, Biochemistry, Pharmacology +17