Research output per year
Research output per year
Personal profile
Research interests
Molecular biology and molecular genetics of inborn errors of metabolism with focus on inborn errors of isoprenoid/cholesterol biosynthesis and peroxisomal defects.
specialisation
Molecular biology, metabolism, mouse model
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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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
Open Access -
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
Open Access8 Citations (Scopus) -
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
Open Access3 Citations (Scopus) -
Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy
Schwantje, M., Ebberink, M. S., Doolaard, M., Ruiter, J. P. N., Fuchs, S. A., Darin, N., Hedberg-Oldfors, C., Régal, L., Donker Kaat, L., Huidekoper, H. H., Olpin, S., Cole, D., Moat, S. J., Visser, G. & Ferdinandusse, S., Jul 2022, In: Journal of Inherited Metabolic Disease. 45, 4, p. 819-831 13 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access1 Citation (Scopus) -
Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity
Hagemeijer, M. C., Oussoren, E., Ruijter, G. J. G., Onkenhout, W., Huidekoper, H. H., Ebberink, M. S., Waterham, H. R., Ferdinandusse, S., de Vries, M. C., Huigen, M. C. D. G., Kluijtmans, L. A. J., Coene, K. L. M. & Blom, H. J., 2021, In: JIMD reports. 61, 1, p. 12-18 7 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access3 Citations (Scopus)