Browsing Research Articles (Paediatrics and Child Health) by Author "Wevers, Ron A."

Browsing Research Articles (Paediatrics and Child Health) by Author "Wevers, Ron A."

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  • 3-Methylglutaconic aciduria-lessons from 50 genes and 977 patients 
    Wortmann, Saskia B.; Kluijtmans, Leo A. J.; Rodenburg, Richard J.; Sass, Jörn Oliver; Nouws, Jessica; Van Kaauwen, Edwin P.; Kleefstra, Tjitske; Tranebjaerg, Lisbeth; De Vries, Maaike C.; Isohanni, Pirjo; Walter, Katharina; Alkuraya, Fowzan S.; Smuts, Izelle; Reinecke, Carolus J.; Van der Westhuizen, Francois Hendrikus; Thorburn, David; Smeitink, Jan A.M.; Morava, Eva; Wevers, Ron A. (Springer, 2013-11)
    Elevated urinary excretion of 3-methylglutaconic acid is considered rare in patients suspected of a metabolic disorder. In 3-methylglutaconyl-CoA hydratase deficiency (mutations in AUH), it derives from leucine degradation. ...
  • Disclosure of a putative biosignature for respiratory chain disorders through a metabolomics approach 
    Smuts, Izelle; Van der Westhuizen, Francois Hendrikus; Louw, Roan; Mienie, Lodewyk J.; Engelke, Udo F.H.; Wevers, Ron A.; Mason, Shayne; Koekemoer, Gerhard; Reinecke, Carolus J. (Springer, 2013-04)
    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 ...