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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
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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
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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
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