Cristin-person-ID: 6771
Person

Yngve Thomas Bliksrud

  • Stilling:
    Overlege
    ved Avdeling for medisinsk biokjemi ved Oslo universitetssykehus HF

Resultater Resultater

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

Tangeraas, Trine; Sæves, Ingjerd; Klingenberg, Claus; Jørgensen, Jens V; Kristensen, Erle; Gunnarsdottir, Gunnþórunn; Hansen, Eirik Vangsøy; Strand, Janne Maren; Lundman, Emma; Ferdinandusse, Sacha mfl.. 2020, International Journal of Neonatal Screening (IJNS). UvA, UIT, KAROLINSKA, UNN, MAYO, HAUKELAND, UIO, OUSVitenskapelig artikkel

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

Wintjes, Liesbeth T.; Kava, Maina; van den Brandt, Frans A.; van den brandt, Mariël A.M.; Lapina, Oksana; Bliksrud, Yngve Thomas; Kulseth, Mari Ann; Amundsen, Silja Svanstrøm; Selberg, Terje Reidar; Ybema-Antoine, Marion mfl.. 2020, Human Mutation. AUSTRALIA, RCH, MELB, OUS, NEDERLAND, ØSTFOLD, UWAVitenskapelig artikkel

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

Halleland, Helene; Bliksrud, Yngve Thomas; Elgen, Irene Bircow; Szigetvari, Peter Daniel; Kleppe, Rune; Ghorbani, Sadaf; Hansen, Eirik Vangsøy; Haavik, Jan. 2019, American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. HAUKELAND, OUS, UIBVitenskapelig artikkel

Pyruvatdehydrogenase-mangel.

Pedersen, Sigrid; Bliksrud, Yngve Thomas; Selmer, Kaja Kristine; Ramm-Pettersen, Anette. 2019, Tidsskrift for Den norske legeforening. OUSVitenskapelig artikkel

High Dietary Folic Acid and High Plasma Folate in Children and Adults with Phenylketonuria.

Stølen, Linn Helene; Lilje, Rina; Jørgensen, Jens Veilemand; Bliksrud, Yngve Thomas; Almaas, Runar. 2014, JIMD Reports. OUSVitenskapelig artikkel
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