Browsing by Author "Kluijtmans, Leo A. J."

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    • 3-Methylglutaconic aciduria: lessons from 50 genes and 977 patients 

      Wortmann, Saskia B.; Reinecke, Carolus J.; Van der Westhuizen, Francois H.; Kluijtmans, Leo A. J.; Rodenburg, Richard J. (Springer, 2013)
      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. ...