Browsing ODA Open Digital Archive by Author "Elgstøen, Katja B. Prestø"

Now showing items 1-5 of 5

    • Dried blood spot analysis with liquid chromatography and mass spectrometry: Trends in clinical chemistry 

      Skogvold, Hanne Bendiksen; Rootwelt, Helge; Reubsaet, Leon; Elgstøen, Katja B. Prestø; Wilson, Steven Ray Haakon (Peer reviewed; Journal article, 2023)
      Dried blood spot samples are simple to prepare and transport, enabling safe andaccessible diagnostics, both locally and globally. We review dried blood spot sam-ples for clinical analysis, focusing on liquid chromatography-mass ...

    • A global metabolomics minefield: Confounding effects of preanalytical factors when studying rare disorders 

      Skogvold, Hanne Bendiksen; Wilson, Steven Ray Haakon; Rønning, Per Ola; Ferrante, Linda; Opdal, Siri Hauge; Rognum, Torleiv Ole; Rootwelt, Helge; Elgstøen, Katja B. Prestø (Peer reviewed; Journal article, 2023)
      A common challenge when studying rare diseases or medical conditions is the limited number of patients, usually resulting in long inclusion periods as well as unequal sam- pling and storage conditions. The main purpose ...

    • A monoallelic UXS1 variant associated with short-limbed short stature 

      Rustad, Cecilie F.; Backe, Paul Hoff; Jin, Chunsheng; Merckoll, Else; Tveten, Kristian; Maciej-Hulme, Marissa Lucy; Karlsson, Niclas; Prescott, Trine; Mørk Sandås, Elise; Woldseth, Berit; Elgstøen, Katja B. Prestø; Holla, Øystein Lunde (Peer reviewed; Journal article, 2024)
      Background: Serine residues in the protein backbone of heavily glycosylated proteoglycans are bound to glycosaminoglycans through a tetrasaccharide linker. UXS1 encodes UDP-glucuronate decarboxylase 1, which catalyzes ...

    • A pioneer study on human 3-nitropropionic acid intoxication: Contributions from metabolomics 

      Skogvold, Hanne Bendiksen; Yazdani, Mazyar; Mørk Sandås, Elise; Østeby, Anja; Kristensen, Erle; Haarr, Dagfinn; Rootwelt, Helge; Elgstøen, Katja B. Prestø (Peer reviewed; Journal article, 2021)
      The neurotoxin 3-nitropropionic acid (3-NPA) is an inhibitor of succinate dehydrogenase, an enzyme participating both in the citric acid cycle and the mitochondrial respiratory chain. In human intoxications, it produces ...

    • Tear metabolomics in dry eye disease: A review 

      Yazdani, Mazyar; Elgstøen, Katja B. Prestø; Rootwelt, Helge; Shahdafar, Aboulghassem; Utheim, Øygunn Aass; Utheim, Tor Paaske (International Journal of Molecular Sciences;Volume 20, Issue 15, Journal article; Peer reviewed, 2019-08-01)
      Dry eye disease (DED) is a multifactorial syndrome that can be caused by alteration in the quality or quantity of the precorneal tear film. It is considered one of the most common ocular conditions leading patients to seek ...