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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Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics
Vaz, F. M., Staps, P., van Klinken, J. B., van Lenthe, H., Vervaart, M., Wanders, R. J. A., Pras-Raves, M. L., van Weeghel, M., Salomons, G. S., Ferdinandusse, S., Wevers, R. A. & Willemsen, M. A. A. P., 1 Mar 2024, In: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS. 1869, 2, p. 159447 159447.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders
Schwantje, M., Mosegaard, S., Knottnerus, S. J. G., van Klinken, J. B., Wanders, R. J., van Lenthe, H., Hermans, J., IJlst, L., Denis, S. W., Jaspers, Y. R. J., Fuchs, S. A., Houtkooper, R. H., Ferdinandusse, S. & Vaz, F. M., 29 Feb 2024, In: FASEB Journal. 38, 4, e23478.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
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 -
Cardiovascular involvement in later-onset malonyl-CoA decarboxylase deficiency: Case studies and literature review
Monda, E., Bakalakos, A., Syrris, P., Mohiddin, S., Ferdinandusse, S., Murphy, E. & Elliott, P. M., Dec 2023, In: European journal of medical genetics. 66, 12, 104885.Research output: Contribution to journal › Article › Academic › peer-review
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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., Dec 2023, In: Molecular genetics and genomic medicine. 11, 12, e2256.Research output: Contribution to journal › Article › Academic › peer-review
Open Access1 Citation (Scopus)
Datasets
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Clinical characteristics PCD
Crefcoeur, L. L. (Creator), Visser, G. (Creator), Ferdinandusse, S. (Creator), Wijburg, F. (Creator), Langeveld, M. (Creator), Sjouke, B. (Creator) & Sjouke, B. (Creator), University of Amsterdam / Amsterdam University of Applied Sciences, 2022
DOI: 10.21942/uva.17722598, https://uvaauas.figshare.com/articles/dataset/Clinical_characteristics_PCD/17722598
Dataset
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Clinical characteristics PCD
Crefcoeur, L. L. (Creator), Visser, G. (Creator), Ferdinandusse, S. (Creator), Wijburg, F. (Creator), Langeveld, M. (Creator), Sjouke, B. (Creator) & Sjouke, B. (Creator), University of Amsterdam / Amsterdam University of Applied Sciences, 2022
DOI: 10.21942/uva.17722598.v1, https://uvaauas.figshare.com/articles/dataset/Clinical_characteristics_PCD/17722598/1
Dataset