Blar i forfatter "Lundman, Emma"

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    • A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT 

      Jørgensen, Silje Fjellgård; Buechner, Jochen; Myhre, Anders E.; Galteland, Eivind; Spetalen, Signe; Kulseth, Mari Ann; Sorte, Hanne Sørmo; Holla, Øystein Lunde; Lundman, Emma; Alme, Charlotte; Heier, Ingvild; Flægstad, Trond; Fløisand, Yngvar; Benneche, Andreas; Fevang, Børre; Aukrust, Pål; Stray-Pedersen, Asbjørn; Gedde-Dahl, Tobias; Nordøy, Ingvild (Journal article; Tidsskriftartikkel; Peer reviewed, 2021-12-10)
      Purpose: GATA2 deficiency is a rare primary immunodeficiency that has become increasingly recognized due to improved molecular diagnostics and clinical awareness. The only cure for GATA2 deficiency is allogeneic hematopoietic stem cell transplantation (allo-HSCT). The inconsistency of genotype-phenotype correlations makes the decision regarding "who and when" to transplant challenging. Despite ...

    • 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 ...