Blar i forfatter "Hansen, Eirik Vangsøy"

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    • 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; Kristensen, Erle; Gunnarsdottir, Gunnþórunn; Hansen, Eirik Vangsøy; Strand, Janne Maren; Lundman, Emma; Ferdinandusse, Sacha; Salvador, Cathrin Lytomt; Woldseth, Berit; Bliksrud, Yngve Thomas; Sagredo, Carlos; Olsen, Øyvind Edon; Berge, Mona C.; Trømborg, Anette Kjoshagen; Ziegler, Anders; Zhang, Jin Hui; Sørgjerd, Linda Karlsen; Ytre-Arne, Mari Eknes; Hogner, Silje; Løvoll, Siv M.; Olavsen, Mette R. Kløvstad; Navarrete, Dionne; Gaup, Hege Junita; Lilje, Rina; Zetterström, Rolf H.; Stray-Pedersen, Asbjørg; Rootwelt-Revheim, Terje; Rinaldo, Piero; Rowe, Alexander D.; Pettersen, Rolf D. (Journal article; Tidsskriftartikkel; Peer reviewed, 2020-06-27)
      In 2012, the Norwegian newborn screening program (NBS) was expanded (eNBS) from screening for two diseases to that for 23 diseases (20 inborn errors of metabolism, IEMs) and again in 2018, to include a total of 25 conditions (21 IEMs). Between 1 March 2012 and 29 February 2020, 461,369 newborns were screened for 20 IEMs in addition to phenylketonuria (PKU). Excluding PKU, there were 75 true-positive ...