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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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Fibroblast-specific genome-scale modelling predicts an imbalance in amino acid metabolism in Refsum disease
Wegrzyn, A. B., Herzog, K., Gerding, A., Kwiatkowski, M., Wolters, J. C., Dolga, A. M., van Lint, A. E. M., Wanders, R. J. A., Waterham, H. R. & Bakker, B. M., Dec 2020, In: FEBS journal. 287, 23, p. 5096-5113 18 p.Research output: Contribution to journal › Article* › Academic › peer-review
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