Saskia B Wortmann

Summary

Publications

  1. Wortmann S, Kluijtmans L, Sequeira S, Wevers R, Morava E. Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect. JIMD Rep. 2014;16:1-6 pubmed publisher
  2. McCann B, Tuppen H, Küsters B, Lammens M, Smeitink J, Taylor R, et al. A novel mitochondrial DNA m.7507A>G mutation is only pathogenic at high levels of heteroplasmy. Neuromuscul Disord. 2015;25:262-7 pubmed publisher
    ..We hereby conclude that the m.7507A>G mutation causes a heterogeneous clinical phenotype and is only pathogenic at very high levels of mtDNA heteroplasmy. ..
  3. Wortmann S, Espeel M, Almeida L, Reimer A, Bosboom D, Roels F, et al. Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids. J Inherit Metab Dis. 2015;38:99-110 pubmed publisher