• Case report: ADHD and prognosis in tyrosinemia type 1 

      Halleland, Helene; Elgen, Irene Bircow; Bliksrud, Yngve Thomas; Hansen, Eirik Vangsøy; Skavhellen, Rita Rigmor; Furevik, Magne Ivar; Haavik, Jan (Journal article; Peer reviewed, 2023-07-18)
      Neurometabolic disorders such as tyrosinemia type 1 (TYRSN1) may interfere with brain metabolism and show symptoms of attention-deficit hyperactivity disorder (ADHD) in patients treated with the enzyme inhibitor nitisinone ...
    • Renal function, sex and age influence purines and pyrimidines in urine and could lead to diagnostic misinterpretation 

      Salvador, Cathrin Lytomt; Flemmen, Per Tryggve Kjelland; Tøndel, Camilla; Bliksrud, Yngve Thomas; Tsui, Ellen Fun Fong; Brun, Atle; Bjerre, Anna Kristina; Mørkrid, Lars (Journal article; Peer reviewed, 2023)
      Glomerular filtration rate (GFR) is commonly used in clinical practice for the diagnosis and follow-up of chronic kidney disease. Screening for inborn errors of metabolism (IEM) is based on analysis of biomarkers in urine, ...
    • Tyrosinemia Type 1 and symptoms of ADHD: Biochemical mechanisms and implications for treatment and prognosis 

      Barone, Helene; Bliksrud, Yngve Thomas; Elgen, Irene Bircow; Szigetvari, Peter Daniel; Kleppe, Rune; Ghorbani, Sadaf; Hansen, Eirik Vangsøy; Haavik, Jan (Peer reviewed; Journal article, 2020)
      Hereditary tyrosinemia Type 1 (HT‐1) is a rare metabolic disease where the enzyme catalyzing the final step of tyrosine breakdown is defect, leading to accumulation of toxic metabolites. Nitisinone inhibits the degradation ...