-
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders
van Karnebeek, C. D. M., Tarailo-Graovac, M., Leen, R., Meinsma, R., Correard, S., Jansen-Meijer, J., Prykhozhij, S. V., Pena, I. A., Ban, K., Schock, S., Saxena, V., Pras-Raves, M. L., Drögemöller, B. I., Grootemaat, A. E., van der Wel, N. N., Dobritzsch, D., Roseboom, W., Schomakers, B. V., Jaspers, Y. R. J., Zoetekouw, L., & 23 others, 1 Jun 2024, In: Genetics in medicine. 26, 6, 101104.Research output: Contribution to journal › Article › Academic › peer-review
-
Four-dimensional lipidomics profiling in X-linked adrenoleukodystrophy using trapped ion mobility mass spectrometry
Jaspers, Y. R. J., Meyer, S. W., Pras-Raves, M. L., Dijkstra, I. M. E., Wever, E. J. M., Dane, A. D., van Klinken, J. B., Salomons, G. S., Houtkooper, R. H., Engelen, M., Kemp, S., Van Weeghel, M. & Vaz, F. M., 1 Jun 2024, In: Journal of Lipid Research. 65, 6 June, 100567.Research output: Contribution to journal › Article › Academic › peer-review
-
Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics
Vaz, F. M., Staps, P., van Klinken, J. B., van Lenthe, H., Vervaart, M., Wanders, R. J. A., Pras-Raves, M. L., van Weeghel, M., Salomons, G. S., Ferdinandusse, S., Wevers, R. A. & Willemsen, M. A. A. P., 1 Mar 2024, In: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS. 1869, 2, p. 159447 159447.Research output: Contribution to journal › Article › Academic › peer-review
- All publications
