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    • Clinical variability of isovaleric acidemia in a genetically homogeneous population 

      Dercksen, M.; Mienie, L.J.; Reinecke, C.J.; Duran, M.; Ijlst, L.; Wanders, R.J.A. (Springer, 2012)
      Isovaleric acidemia (IVA) is one of the most common organic acidemias found in South Africa. Since 1983, a significant number of IVA cases have been identified in approximately 20,000 Caucasian patients screened for metabolic ...