Now showing items 1-3 of 3

    • Disclosure of a putative biosignature for respiratory chain disorders through a metabolomics approach 

      Smuts, Izelle; Van der Westhuizen, Francois H.; Louw, Roan; Mienie, Lodewyk J.; Mason, Shayne; Koekemoer, Gerhard; Reinecke, Carolus J. (Springer, 2013)
      The diagnosis of respiratory chain deficiencies (RCDs) is complicated and the need for a diagnostic biomarker or biosignature has been widely expressed. In this study, the metabolic profile of a selected group of 29 ...
    • Metabolomics of urinary organic acids in respiratory chain deficiencies in children 

      Reinecke, Carolus J.; Koekemoer, Gerhard; Van der Westhuizen, Francois H.; Louw, Roan; Lindeque, Jeremie Z.; Mienie, Lodewyk J.; Smuts, Izelle (Springer, 2012)
      Metabolomic analysis of the urinary organic acids from 39 selected children with defined respiratory chain deficiencies (RCDs) was performed using untargeted gas chromatography–mass spectrometry, revealing the presence ...
    • Organic acid profile of isovaleric acidemia: a comprehensive metabolomics approach 

      Dercksen, Marli; Koekemoer, Gerhard; Mienie, Lodewyk J.; Reinecke, Carolus J.; Duran, Marinus (Springer, 2013)
      Isovaleric acidemia (IVA, MIM 248600) can be a severe and potentially life-threatening disease in affected neonates, but with a positive prognosis on treatment for some phenotypes. This study presents the first ...