Specialization
Clinical Biochemical Geneticist
Focus of research
Inherited metabolic disorders with the emphasis on peroxisomal and mitochondrial fatty acid oxidation disorders.
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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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Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases
Berner, J., van de Wetering, C., Jimenez Heredia, R., Rashkova, C., Ferdinandusse, S., Koster, J., Weiss, J. G., Frohne, A., Giuliani, S., Waterham, H. R., Castanon, I., Brunner, J. R. & Boztug, K., Oct 2023, In: Journal of allergy and clinical immunology. 152, 4, p. 1025-1031.e2Research output: Contribution to journal › Article › Academic › peer-review
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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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