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
Network
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. A., Daniels, E. G., van Engen, C. E., Falkenberg, K. D., Gao, A., Held, N. M., Herzog, K., Khan, R. R., Schackmann, M. J. A., Liu, J., Wanders, R. J. A., Ferdinandusse, S., Kulik, W., van Roermund, C. W. T., Vaz, F. M., Houtkooper, R., te Brinke, H., Denis, S. W. & IJlst, L.
1/01/2007 → …
Project: Research
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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
Open Access -
THE PHYSIOLOGICAL FUNCTIONS OF HUMAN PEROXISOMES
Wanders, R. J. A., Baes, M., Ribeiro, D., Ferdinandusse, S. & Waterham, H. R., 1 Jan 2023, In: Physiological Reviews. 103, 1, p. 957-1024 68 p.Research output: Contribution to journal › Review article › Academic › peer-review
2 Citations (Scopus) -
3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC–MS/MS method
Sasarman, F., Ferdinandusse, S., Sinasac, D. S., Fung, E., Sparkes, R., Reeves, M., Rombough, C., Sass, J. R. O., Voit, R., Ruiter, J. P. N., Koster, J., Waterham, H. R., Pasquini, E., Donati, M. A., Marquardt, T., Wanders, R. J. A. & Al-Hertani, W., 1 May 2022, In: Journal of Inherited Metabolic Disease. 45, 3, p. 445-455 11 p.Research output: Contribution to journal › Article › Academic › peer-review
1 Citation (Scopus) -
Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach
Crefcoeur, L. L., Visser, G., Ferdinandusse, S., Wijburg, F. A., Langeveld, M. & Sjouke, B., 1 May 2022, In: Journal of Inherited Metabolic Disease. 45, 3, p. 386-405 20 p.Research output: Contribution to journal › Review article › Academic › peer-review
Open Access4 Citations (Scopus) -
D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia
Werner, K. M., Cox, A. J., Qian, E., Jain, P., Ji, W., Tikhonova, I., Castaldi, C., Bilguvar, K., Knight, J., Ferdinandusse, S., Fawaz, R., Jiang, Y-H., Gallagher, P. G., Bizzarro, M., Gruen, J. R., Bale, A. & Zhang, H., Jan 2022, In: American Journal of Medical Genetics. Part A. 188, 1, p. 357-363 7 p.Research output: Contribution to journal › Article › Academic › peer-review
1 Citation (Scopus)