Saskia B Wortmann
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
McCann B, Tuppen H, KÃ¼sters 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. ..
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