• Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease 

      Lehtonen, Jenni M.; Auranen, Mari; Darin, Niklas; Sofou, Kalliopi; Bindoff, Laurence; Hikmat, Omar; Uusimaa, Johanna; Vieira, Paivi; Tulinius, Már; Lönnqvist, Tuula; de Coo, Irenaeus F.; Suomalainen, Anu; Isohanni, Pirjo (Journal article; Peer reviewed, 2021)
      The aim of this study was to compare the value of serum biomarkers, fibroblast growth factor 21 (FGF21) and growth differentiation factor 15 (GDF15), with histological analysis of muscle in the diagnosis of mitochondrial ...
    • Using urine to diagnose large-scale mtDNA deletions in adult patients 

      Varhaug, Kristin Nielsen; Sanchez Nido, Gonzalo; de Coo, Irenaeus; Isohanni, Pirjo; Suomalainen, Anu; Tzoulis, Charalampos; Knappskog, Per; Bindoff, Laurence (Journal article; Peer reviewed, 2020)
      Objective The aim of this study was to evaluate if urinary sediment cells offered a robust alternative to muscle biopsy for the diagnosis of single mtDNA deletions. Methods Eleven adult patients with progressive ...