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You searched for: Author/Creator Jakobs, Cornelis

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1. Experimental evidence of oxidative stress in patients with l-2-hydroxyglutaric aciduria and that l-carnitine attenuates in vitro DNA damage caused by d-2-hydroxyglutaric and l-2-hydroxyglutaric acids. (August 2017)

2. L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model. Issue 5 (2nd May 2007)

4. Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing. Issue 11 (18th September 2013)

9. Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype. Issue 6 (12th January 2013)