Amsterdam Gastroenterology Endocrinology Metabolism
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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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Exploring the metabolic fate of medium-chain triglycerides in healthy individuals using a stable isotope tracer
Knottnerus, S. J. G., van Harskamp, D., Schierbeek, H., Bleeker, J. C., Crefcoeur, L. L., Ferdinandusse, S., van Goudoever, J. B., Houtkooper, R. H., IJlst, L., Langeveld, M., Wanders, R. J. A., Vaz, F. M., Wijburg, F. A. & Visser, G., Mar 2021, In: Clinical nutrition (Edinburgh, Scotland). 40, 3, p. 1396-1404 9 p.Research output: Contribution to journal › Article* › Academic › peer-review
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The Saccharomyces cerevisiae ABC subfamily D transporter Pxa1/Pxa2p co-imports CoASH into the peroxisome
van Roermund, C. W. T., IJlst, L., Baker, A., Wanders, R. J. A., Theodoulou, F. L. & Waterham, H. R., Mar 2021, In: FEBS letters. 595, 6, p. 763-772 10 p.Research output: Contribution to journal › Article* › Academic › peer-review
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