1. 2022
  2. Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands

    Schwantje, M., Fuchs, S. A., de Boer, L., Bosch, A. M., Cuppen, I., Dekkers, E., Derks, T. G. J., Ferdinandusse, S., Ijlst, L., Houtkooper, R. H., Maase, R., van der Pol, W. L., de Vries, M. C., Verschoof-Puite, R. K., Wanders, R. J. A., Williams, M., Wijburg, F. & Visser, G., Jul 2022, In: Journal of inherited metabolic disease. 45, 4, p. 804-818 15 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Peroxisomal ATP Uptake Is Provided by Two Adenine Nucleotide Transporters and the ABCD Transporters

    van Roermund, C. W. T., IJlst, L., Linka, N., Wanders, R. J. A. & Waterham, H. R., 19 Jan 2022, In: Frontiers in cell and developmental biology. 9, 788921.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. 2021
  5. 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 journalArticleAcademicpeer-review

  6. 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 journalArticleAcademicpeer-review

  7. Peroxisomal Metabolite and Cofactor Transport in Humans

    Chornyi, S., IJlst, L., van Roermund, C. W. T., Wanders, R. J. A. & Waterham, H. R., 11 Jan 2021, In: Frontiers in cell and developmental biology. 8, 613892.

    Research output: Contribution to journalReview articleAcademicpeer-review

  8. 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)

    Ferdinandusse, S., McWalter, K., te Brinke, H., IJlst, L., Mooijer, P. M., Ruiter, J. P. N., van Lint, A. E. M., Pras-Raves, M., Wever, E., Millan, F., Guillen Sacoto, M. J., Begtrup, A., Tarnopolsky, M., Brady, L., Ladda, R. L., Sell, S. L., Nowak, C. B., Douglas, J., Tian, C., Ulm, E. & 31 others, Perlman, S., Drack, A. V., Chong, K., Martin, N., Brault, J., Brokamp, E., Toro, C., Gahl, W. A., Macnamara, E. F., Wolfe, L., Alejandro, M. E., Azamian, M. S., Bacino, C. A., Balasubramanyam, A., Burrage, L. C., Chao, H-T., Clark, G. D., Craigen, W. J., Dai, H., Dhar, S. U., Emrick, L. T., Goldman, A. M., Hanchard, N. A., Jamal, F., Karaviti, L., Undiagnosed Diseases Network, Zwijnenburg, P. J. G., van Kampen, A. H. C., Wanders, R. J. A., Waterham, H. R. & Vaz, F. M., 2021, (E-pub ahead of print) In: Genetics in medicine.

    Research output: Contribution to journalComment/Letter to the editorAcademic

  9. 2020
  10. Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency

    Bleeker, J. C., Visser, G., Clarke, K., Ferdinandusse, S., de Haan, F. H., Houtkooper, R. H., IJlst, L., Kok, I. L., Langeveld, M., van der Pol, W. L., de Sain-van der Velden, M. G. M., Sibeijn-Kuiper, A., Takken, T., Wanders, R. J. A., van Weeghel, M., Wijburg, F. A., van der Woude, L. H., Wüst, R. C. I., Cox, P. J. & Jeneson, J. A. L., 1 Jul 2020, In: Journal of inherited metabolic disease. 43, 4, p. 787-799 13 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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