Projects per year
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
-
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
-
Glyoxylate reductase: Definitive identification in human liver mitochondria, its importance for the compartment-specific detoxification of glyoxylate
Garrelfs, S. F., Chornyi, S., te Brinke, H., Ruiter, J., Groothoff, J. & Wanders, R. J. A., Mar 2024, In: Journal of Inherited Metabolic Disease. 47, 2, p. 280-288 9 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
Undiagnosed Diseases Network, Apr 2021, In: Genetics in medicine. 23, 4, p. 740-750 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access23 Citations (Scopus) -
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (Genetics in Medicine, (2021), 23, 4, (740-750), 10.1038/s41436-020-01027-3)
Undiagnosed Diseases Network, 2021, (E-pub ahead of print) In: Genetics in medicine.Research output: Contribution to journal › Comment/Letter to the editor › Academic
Open Access1 Citation (Scopus) -
Increased protein propionylation contributes to mitochondrial dysfunction in liver cells and fibroblasts, but not in myotubes
Lagerwaard, B., Pougovkina, O., Bekebrede, A. F., te Brinke, H., Wanders, R. J. A., Nieuwenhuizen, A. G., Keijer, J. & de Boer, V. C. J., Mar 2021, In: Journal of Inherited Metabolic Disease. 44, 2, p. 438-449 12 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access10 Citations (Scopus) -
A mutation creating an upstream translation initiation codon in SLC22A5 5′UTR is a frequent cause of primary carnitine deficiency
Ferdinandusse, S., te Brinke, H., Ruiter, J. P. N., Haasjes, J., Oostheim, W., van Lenthe, H., IJlst, L., Ebberink, M. S., Wanders, R. J. A., Vaz, F. M. & Waterham, H. R., 1 Oct 2019, In: Human mutation. 40, 10, p. 1899-1904Research output: Contribution to journal › Article › Academic › peer-review
Open Access18 Citations (Scopus)