• Breastfed Infants With Spells, Tremor, or Irritability: Rule Out Vitamin B12 Deficiency 

      Ljungblad, Ulf Wike; Astrup, Henriette; Mørkrid, Lars; Hager, Helle Borgstrøm; Lindberg, Morten; Eklund, Erik A.; Monsen, Anne-Lise Bjørke; Rootwelt-Revheim, Terje; Tangeraas, Trine (Journal article; Peer reviewed, 2022)
      Background: In Norway, 5-10% of neonates and infants have biomarkers suggesting vitamin B12 deficiency from newborn screening tests and unselected clinical screening, respectively. Aims: The aims were to identify risk ...
    • Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders 

      Mannucci, Ilaria; Dang, Nghi D. P.; Huber, Hannes; Murry, Jaclyn B.; Abramson, Jeff; Althoff, Thorsten; Banka, Siddharth; Baynam, Gareth; Bearden, David; Beleza-Meireles, Ana; Benke, Paul J.; Berland, Siren; Bierhals, Tatjana; Bilan, Frédéric; Bindoff, Laurence A.; Braathen, Geir Julius; Busk, Øyvind; Chenbhanich, Jirat; Denecke, Jonas; Escobar, Luis F.; Estes, Caroline; Fleischer, Julie; Groepper, Daniel; Haaxma, Charlotte A.; Hempel, Maja; Holler-Managan, Yolanda; Houge, Gunnar Douzgos; Jackson, Adam; Kellogg, Laura; Keren, Boris; Kiraly-Borri, Catherine; Kraus, Cornelia; Kubisch, Christian; Le Guyader, Gwenaël; Ljungblad, Ulf Wike; Martinez-Agosto, Julian A.; Brenman, Leslie Manace; Might, Matthew; Miller, David T.; Minks, Kelly Q.; Moghaddam, Billur; Nava, Caroline; Nelson, Stanley F.; Parant, John M.; Prescott, Trine; Rajabi, Farrah; Randrianaivo, Hanitra; Reiter, Simone B. C. Frizell; Schuurs-Hoeijmakers, Janneke; Shieh, Perry B.; Slavotinek, Anne; Smithson, Sarah; Stegmann, Alexander P. A.; Tomczak, Kinga; Tveten, Kristian; Wang, Jun; Whitlock, Jordan H.; Zweier, Christiane; McWalter, Kirsty; Juusola, Jane; Quintero-Rivera, Fabiola; Fischer, Utz; Yeo, Nan Cher; Kreienkamp, Hans-Jürgen; Lessel, Davor (Journal article; Peer reviewed, 2021)
      Background: We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Methods: Clinical and genetic data from affected individuals ...
    • The prevalence and clinical relevance of hyperhomocysteinemia suggesting vitamin B12 deficiency in presumed healthy infants 

      Ljungblad, Ulf Wike; Paulsen, Henriette; Mørkrid, Lars; Pettersen, Rolf Dagfinn; Hager, Helle Borgstrøm; Lindberg, Morten; Astrup, Henriette; Eklund, Erik A.; Monsen, Anne-Lise Bjørke; Rootwelt-Revheim, Terje; Tangeraas, Trine (Journal article; Peer reviewed, 2021)
      Background Previous studies have demonstrated a high prevalence of biochemical vitamin B12 deficiency in infants in Norway. Increased total homocysteine (tHcy) is the most important marker of B12 deficiency in infants. ...