Browsing Faculty of Natural and Agricultural Sciences by Author "Ijlst, L."

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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 ...
Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate esters

Dercksen, M.; Mienie, L.J.; Van der Westhuizen, F.H.; Ijlst, L.; Duran, M. (Elsevier, 2014)

Hyperammonemia is a frequent finding in various organic acidemias. One possible mechanism involves the inhibition of the enzyme N-acetylglutamate synthase (NAGS), by short-chain acyl-CoAs which accumulate due to defective ...