Browsing Det medisinske fakultet by Author "Mørkrid, Lars"

Now showing items 1-20 of 22

  • A novel approach to improve newborn screening for congenital hypothyroidism by integrating covariate-adjusted results of different tests into CLIR customized interpretive tools 
    Rowe, Alexander D.; Stoway, Stephanie D.; Åhlman, Henrik; Arora, Vaneet; Caggana, Michele; Fornari, Anna; Hagar, Arthur; Hall, Patricia; Marquardt, Gregg C.; Miller, Bobby J.; Nixon, Christopher; Norgan, Andrew P.; Orsini, Joseph J.; Pettersen, Rolf Dagfinn; Piazza, Amy L.; Schubauer, Neil R.; Smith, Amy C.; Tang, Hao; Tavakoli, Norma P.; Wei, Sainan; Zetterström, Rolf H.; Currier, Robert J.; Mørkrid, Lars; Rinaldo, Piero (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2021)
    Newborn screening for congenital hypothyroidism remains challenging decades after broad implementation worldwide. Testing protocols are not uniform in terms of targets (TSH and/or T4) and protocols (parallel vs. sequential ...
  • Bloodlettings in Hemochromatosis Result in Increased Blood Lead (Pb) Concentrations 
    Yazdani, Mazyar; Distante, Sonia; Mørkrid, Lars; Ulvik, Rune Johan; Bolann, Bjørn Johan (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2022)
    Abstract Hemochromatosis is a hereditary disorder, most often associated with mutations of the HFE (High FErrum) gene. If left untreated, it can result in severe parenchymal iron accumulation. Bloodletting is the mainstay ...
  • 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 / Tidsskriftartikkel / PublishedVersion; 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 ...
  • Clinical variables as indicative factors for endoscopy in adolescents with esophageal atresia 
    Mikkelsen, Audun; Møinichen, Unn Inger; Reims, Henrik Mikael; Grzyb, Krzysztof; Aabakken, Lars; Mørkrid, Lars; IJsselstijn, Hanneke; Emblem, Ragnhild (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2022)
    Introduction Gastro-esophageal reflux disease (GERD) occurs frequently in patients operated for esophageal atresia (EA). Longstanding esophagitis may lead to dysphagia, strictures, columnar metaplasia, and dysplasia with ...
  • Estimating Glomerular Filtration Rate in Kidney Transplant Recipients: Comparing a Novel Equation With Commonly Used Equations in this Population 
    Salvador, Cathrin Lytomt; Hartmann, Anders; Åsberg, Anders; Bergan, Stein; Rowe, Alexander D.; Mørkrid, Lars (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2017)
    Background: Assessment of glomerular filtration rate (GFR) is important in kidney transplantation. The aim was to develop a kidney transplant specific equation for estimating GFR and evaluate against published equations ...
  • Fasting and non-fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease 
    Tangeraas, Trine; Kristensen, Erle; Mørkrid, Lars; Elind, Elisabeth; Bliksrud, Yngve Thomas; Eide, Lars (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2023)
    The branched-chain amino acids (BCAA) leucine, valine, and isoleucine provide precursors for monomethyl branched-chain fatty acids (BCFA). Established reference ranges for BCFAs are lacking. In maple syrup urine disease ...
  • High Plasma Oxalate Levels Early After Kidney Transplantation Are Associated With Impaired Long-Term Outcomes 
    Krogstad, Veronica; Elgstøen, Katja B. Prestø; Johnsen, Linda Flaa; Hartmann, Anders; Mørkrid, Lars; Åsberg, Anders (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2022)
    Background: Elevated levels of oxalate are common in renal failure patients and non-hyperoxaluria disease, and may cause damage after transplantation. We examined outcomes after 15 years for 167 kidney transplant recipients ...
  • HLA-DQ-Gluten Tetramer Blood Test Accurately Identifies Patients With and Without Celiac Disease in Absence of Gluten Consumption 
    Sarna, Vikas Kumar; Lundin, Knut Erik Aslaksen; Mørkrid, Lars; Qiao, Shuo Wang; Sollid, Ludvig Magne; Christophersen, Asbjørn (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2017)
    Background & Aims: Celiac disease is characterized by HLA-DQ2/8-restricted responses of CD4+ T cells to cereal gluten proteins. A diagnosis of celiac disease based on serologic and histologic evidence requires patients to ...
  • Impaired motor performance in adolescents with esophageal atresia 
    Møinichen, Unn Inger; Mikkelsen, Audun; Faugli, Anne; Mørkrid, Lars; Ijsselstijn, Hanneke; Emblem, Ragnhild (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2020)
    Aims The study prospectively assessed motor development from infancy to adolescence in patients with esophageal atresia (EA). Methods At one year of age motor performance was evaluated with the Psychomotor Developmental ...
  • Mechanical dispersion as a marker of left ventricular dysfunction and prognosis in stable coronary artery disease 
    Kvisvik, Brede Alexander; Aagard, Erika Nerdrum; Mørkrid, Lars; Røsjø, Helge; Lyngbakken, Magnus; Smedsrud, Marit Kristine; Eek, Christian; Bendz, Bjørn; Haugaa, Kristina; Edvardsen, Thor; Gravning, Jørgen A. (Journal article / Tidsskriftartikkel / AcceptedVersion; Peer reviewed, 2019)
    Assessment of global longitudinal strain (GLS) is superior to ejection fraction (EF) in the evaluation of left ventricular (LV) function in patients with stable coronary artery disease (CAD). However, the role of mechanical ...
  • New insights in the prevalence of scoliosis and musculoskeletal asymmetries in adolescents with esophageal atresia 
    Møinichen, Unn Inger; Mikkelsen, Audun; Gunderson, Ragnhild B.; Kibsgård, Thomas Johan; Mørkrid, Lars; IJsselstijn, Hanneke; Emblem, Ragnhild (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2022)
    Background Increased risk of scoliosis and musculoskeletal abnormalities in adolescents with esophageal atresia (EA) is reported, but the impact of these abnormalities on physical fitness and motor skills are not known. ...
  • Percentiles of intrauterine placental volume and placental volume relative to fetal volume: A prospective magnetic resonance imaging study 
    Peterson, Helene Fjeldvik; Eskild, Anne; Sommerfelt, Silje; Gjesdal, Kjell Inge; Borthne, Arne Sigmund; Mørkrid, Lars; Hillestad, Vigdis (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2022)
    Introduction We aimed to provide percentiles of intrauterine placental growth and placental growth relative to fetal growth (placental to fetal ratio) by measuring placental and fetal volumes by magnetic resonance imaging ...
  • Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots 
    Conte, Federica; Morava, Eva; Bakar, Nurulamin Abu; Wortmann, Saskia B.; Poerink, Anne Jonge; Grunewald, Stephanie; Crushell, Ellen; Al-Gazali, Lihadh; de Vries, Maaike C.; Mørkrid, Lars; Hertecant, Jozef; Brocke, Katja Sara; Kronn, David; Feigenbaum, Annette; Fingerhut, Ralph; Wong, Sunnie Yan-Wai; Van Scherpenzeel, Monique; Voermans, Nicol C.; Lefeber, Dirk J. (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2020)
    Phosphoglucomutase 1 deficiency is a congenital disorder of glycosylation (CDG) with multiorgan involvement affecting carbohydrate metabolism, N-glycosylation and energy production. The metabolic management consists of ...
  • Prevalence and prognostic implication of iron deficiency and anaemia in patients with severe aortic stenosis 
    Kvaslerud, Anette Borger; Hussain, Amjad Iqbal; Auensen, Andreas; Ueland, Thor; Michelsen, Annika; Pettersen, Kjell Ingar; Aukrust, Pål; Mørkrid, Lars; Gullestad, Lars; Broch, Kaspar (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2018)
    Objective The aim of this study was to evaluate the prevalence and prognostic implication of iron deficiency (ID) and anaemia in patients with severe aortic stenosis (AS). Methods In an observational study of consecutive ...
  • Prevalence of antibodies against SARS-CoV-2 among pregnant women in Norway during the period December 2019 through December 2020 
    Eskild, Anne; Mørkrid, Lars; Mortensen, Siri Beisland; Leegaard, Truls Michael (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2022)
    We studied severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) seroprevalence among pregnant women in Norway by including all women who were first trimester pregnant (n = 6520), each month from December 2019 through ...
  • 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 / Tidsskriftartikkel / PublishedVersion; 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, ...
  • Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency 
    Strand, Janne Maren; Gul, Kiran Aftab; Erichsen, Hans Christian; Lundman, Emma; Berge, Mona C.; Trømborg, Anette Kjoshagen; Sørgjerd, Linda K.; Ytre-Arne, Mari Eknes; Hogner, Silje; Halsne, Ruth; Gaup, Hege Junita; Osnes, Liv T. N.; Kro, Grete Anette Birkeland; Sorte, Hanne Sørmo; Mørkrid, Lars; Rowe, Alexander D.; Tangeraas, Trine; Jørgensen, Jens V; Alme, Charlotte; Bjørndalen, Trude E. H.; Rønnestad, Arild Erlend; Lang, Astri Maria; Rootwelt-Revheim, Terje; Buechner, Jochen; Øverland, Torstein; Abrahamsen, Tore G; Pettersen, Rolf Dagfinn; Stray-Pedersen, Asbjørg (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2020)
    Severe combined immunodeficiency (SCID) and other T cell lymphopenias can be detected during newborn screening (NBS) by measuring T cell receptor excision circles (TRECs) in dried blood spot (DBS) DNA. Second tier next ...
  • Structural basis for substrate and product recognition in human phosphoglucomutase-1 (PGM1) isoform 2, a member of the α-D-phosphohexomutase superfamily 
    Backe, Paul Hoff; Lærdahl, Jon Kristen; Kittelsen, Lene Svendsen; Dalhus, Bjørn; Mørkrid, Lars; Bjørås, Magnar (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2020)
    Human phosphoglucomutase 1 (PGM1) is an evolutionary conserved enzyme that belongs to the ubiquitous and ancient α-d-phosphohexomutases, a large enzyme superfamily with members in all three domains of life. PGM1 catalyzes ...
  • 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 / Tidsskriftartikkel / PublishedVersion; 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. ...
  • Traumatic stress, mental health and quality of life in adolescents with esophageal atresia 
    Mikkelsen, Audun; Boye, Birgitte; Diseth, Trond H; Malt, Ulrik Fredrik; Mørkrid, Lars; Ijsselstijn, Hanneke; Emblem, Ragnhild (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2020)
    Introduction We aimed to investigate QoL in EA patients in relation to comparison groups and to clinical factors including experienced traumatic stress. Material and Methods Adolescents with EA in Norway born between ...