Projects per year
Personal profile
Research interests
Inherited metabolic disorders with the emphasis on peroxisomal and mitochondrial fatty acid oxidation disorders.
specialisation
Clinical Biochemical Geneticist
Education/Academic qualification
PhD
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
Projects
- 1 Active
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Wanders R.J.A.: Focus of research
van de Beek, M., Chatzispyrou, I., Daniels, E., van Engen, C., Falkenberg, K., Gao, A., Held, N., Herzog, K., Khan, R., Schackmann, M., Liu, J., Wanders, R., Ferdinandusse, S., Kulik, W., van Roermund, C., Vaz, F., Houtkooper, R., te Brinke, H., Denis, S. & IJlst, L.
1/01/2007 → …
Project: Research
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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 -
Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis
Alabdulrazzaq, F., Alanzi, T., Al-Balool, H. H., Gardham, A., Wakeling, E., Leitch, H. G., AlSayed, M., Abdulrahim, M., Aladwani, A., Romito, A., Kampe, K., Ferdinandusse, S., Aboelanine, A. H., Abdullah, A., Alwadani, A., Bastaki, L., Vaz, F. M., Bertoli-Avella, A. M. & Marafi, D., 2023, (E-pub ahead of print) In: Molecular genetics and genomic medicine.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Newborn screening for primary carnitine deficiency: Who will benefit? - A retrospective cohort study
Crefcoeur, L., Ferdinandusse, S., van der Crabben, S. N., Dekkers, E., Fuchs, S. A., Huidekoper, H., Janssen, M., Langendonk, J., Maase, R., de Sain, M., Rubio, E., van Spronsen, F. J., Vaz, F. M., Verschoof, R., de Vries, M., Wijburg, F., Visser, G. & Langeveld, M., 2023, (E-pub ahead of print) In: Journal of medical genetics. jmg-2023-109206.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
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
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 Access5 Citations (Scopus)