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Institute of Medical Genetics News, Events & Publications

Publication (27 October 2023)

Hülsmeier, Andreas J; Toelle, Sandra P; Bellstedt, Peter; Wentzel, Christian; Bahr, Angela; Kolokotronis, Konstantinos; Hornemann, Thorsten (2023). The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy. PMID: 37890668, DOI: 10.1016/j.jlr.2023.100464Journal of Lipid Research, 64(12):100464.