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    • 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 ...