Specialization
Molecular biology, metabolism, mouse model
Focus of research
Molecular biology and molecular genetics of inborn errors of metabolism with focus on inborn errors of isoprenoid/cholesterol biosynthesis and peroxisomal defects.
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Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene
Waterham, H. R., Koster, J., Ebberink, M. S., Ješina, P., Zeman, J., Nosková, L., Kmoch, S., Devic, P., Cheillan, D., Wanders, R. J. A. & Ferdinandusse, S., 1 Nov 2023, In: Genetics in medicine. 25, 11, 100944.Research output: Contribution to journal › Article › Academic › peer-review
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VUS: Variant of uncertain significance or very unclear situation?
Kemp, S., Orsini, J. J., Ebberink, M. S., Engelen, M. & Lund, T. C., 1 Sept 2023, In: Molecular Genetics and Metabolism. 140, 1-2, 107678.Research output: Contribution to journal › Comment/Letter to the editor › Academic
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Sex-specific newborn screening for X-linked adrenoleukodystrophy
Albersen, M., van der Beek, S. L., Dijkstra, I. M. E., Alders, M., Barendsen, R. W., Bliek, J., Boelen, A., Ebberink, M. S., Ferdinandusse, S., Goorden, S. M. I., Heijboer, A. C., Jansen, M., Jaspers, Y. R. J., Metgod, I., Salomons, G. S., Vaz, F. M., Verschoof-Puite, R. K., Visser, W. F., Dekkers, E., Engelen, M., & 1 others, 17 Jan 2023, In: Journal of inherited metabolic disease. 46, 1, p. 116-128 13 p.Research output: Contribution to journal › Article › Academic › peer-review
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