Search Results - "Østeby, Anja"

Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency by Böhm, Hans-Otto, Yazdani, Mazyar, Sandås, Elise Mørk, Østeby Vassli, Anja, Kristensen, Erle, Rootwelt, Helge, Skogvold, Hanne Bendiksen, Brodtkorb, Eylert, Elgstøen, Katja Benedikte Prestø

“…Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive developmental and epileptic encephalopathy caused by pathogenic variants in the gene…”
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Searching for a UV-filter in the eyes of high-flying birds by Zawadzka, Malgorzata, Ràcz, Beatrix, Ambrosini, Dario, Görbitz, Carl Henrik, Morth, Jens Preben, Wilkins, Alistair L., Østeby, Anja, Elgstøen, Katja Benedikte Prestø, Lundanes, Elsa, Rise, Frode, Ringvold, Amund, Wilson, Steven Ray

“…The eye lens is a unique organ as no cells can be replaced throughout life. This makes it decisive that the lens is protected against damaging UV-radiation. An…”
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A pioneer study on human 3‐nitropropionic acid intoxication: Contributions from metabolomics by Bendiksen Skogvold, Hanne, Yazdani, Mazyar, Sandås, Elise Mørk, Østeby Vassli, Anja, Kristensen, Erle, Haarr, Dagfinn, Rootwelt, Helge, Elgstøen, Katja Benedikte Prestø

“…The neurotoxin 3‐nitropropionic acid (3‐NPA) is an inhibitor of succinate dehydrogenase, an enzyme participating both in the citric acid cycle and the…”
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Bridging the Polar and Hydrophobic Metabolome in Single-Run Untargeted Liquid Chromatography-Mass Spectrometry Dried Blood Spot Metabolomics for Clinical Purposes by Skogvold, Hanne Bendiksen, Sandås, Elise Mørk, Østeby, Anja, Løkken, Camilla, Rootwelt, Helge, Rønning, Per Ola, Wilson, Steven Ray, Elgstøen, Katja Benedikte Prestø

“…Dried blood spot (DBS) metabolite analysis is a central tool for the clinic, e.g., newborn screening. Instead of applying multiple analytical methods, a single…”
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Increased Sphingomyelin and Free Sialic Acid in Cerebrospinal Fluid of Kearns-Sayre Syndrome: New Findings Using Untargeted Metabolomics by Salvador, Cathrin Lytomt, Oppebøen, Mari, Vassli, Anja Østeby, Pfeiffer, Helle Cecilie Viekilde, Varhaug, Kristin Nielsen, Elgstøen, Katja Benedikte Prestø, Yazdani, Mazyar

“…Kearns-Sayre syndrome (KSS) is caused by duplications and/or deletions of mitochondrial DNA (mtDNA) and is typically diagnosed based on a classic triad of…”
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Animal model for metabolomic diffusion studies in the eye by Hiller, John Kim, Sandås, Elise Mørk, Rootwelt, Helge, Vassli, Anja Østeby, Utheim, Tor Paaske, Moe, Morten Carstens, Elgstøen, Katja Benedikte Prestø, Petrovski, Goran

“…Purpose: To explore the diffusion capacities between the anterior and posterior chambers in an ex vivo pig eye model using a mix of isotope‐labelled…”
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