Browsing Department of Clinical Medicine by Author "Østeby Vassli, Anja"

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Increased Sphingomyelin and Free Sialic Acid in Cerebrospinal Fluid of Kearns-Sayre Syndrome: New Findings Using Untargeted Metabolomics

Salvador, Cathrin Lytomt; Oppebøen, Mari; Østeby Vassli, Anja; Pfeiffer, Helle Cecilie; Varhaug, Kristin Nielsen; Elgstøen, Katja B. Prestø; Yazdani, Mazyar (Journal article; Peer reviewed, 2023)

Background: 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 symptoms with chronic progressive external ophthalmoplegia ...