1. 2023
  2. THE PHYSIOLOGICAL FUNCTIONS OF HUMAN PEROXISOMES

    Wanders, R. J. A., Baes, M., Ribeiro, D., Ferdinandusse, S. & Waterham, H. R., 1 Jan 2023, In: Physiological reviews. 103, 1, p. 957-1024 68 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

  3. 2022
  4. Mice with a deficiency in Peroxisomal Membrane Protein 4 (PXMP4) display mild changes in hepatic lipid metabolism

    Blankestijn, M., Bloks, V. W., Struik, D., Huijkman, N., Kloosterhuis, N., Wolters, J. C., Wanders, R. J. A., Vaz, F. M., Islinger, M., Kuipers, F., van de Sluis, B., Groen, A. K., Verkade, H. J. & Jonker, J. W., Dec 2022, In: Scientific reports. 12, 1, p. 2512 2512.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways

    Hermans, M. E., van Weeghel, M., Vaz, F. M., Ferdinandusse, S., Hollak, C. E. M., Huidekoper, H. H., Janssen, M. C. H., van Kuilenburg, A. B. P., Pras-Raves, M. L., Wamelink, M. M. C., Wanders, R. J. A., Welsink-Karssies, M. M. & Bosch, A. M., Nov 2022, In: Journal of inherited metabolic disease. 45, 6, p. 1094-1105 12 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  6. Systematic multi-level analysis of an organelle proteome reveals new peroxisomal functions

    Yifrach, E., Holbrook-Smith, D., Bürgi, J. R., Othman, A., Eisenstein, M., van Roermund, C. W., Visser, W., Tirosh, A., Rudowitz, M., Bibi, C., Galor, S., Weill, U., Fadel, A., Peleg, Y., Erdmann, R., Waterham, H. R., Wanders, R. J. A., Wilmanns, M., Zamboni, N., Schuldiner, M., & 1 othersZalckvar, E., 1 Sep 2022, In: Molecular systems biology. 18, 9, p. e11186 e11186.

    Research output: Contribution to journalArticleAcademicpeer-review

  7. 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

  8. Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography

    Veenvliet, A. R. J., Garrelfs, M. R., Udink ten Cate, F. E. A., Ferdinandusse, S., Denis, S., Fuchs, S. A., Schwantje, M., Geurtzen, R., van Wegberg, A. M. J., Huigen, M. C. D. G., Kluijtmans, L. A. J., Wanders, R. J. A., Derks, T. G. J., de Boer, L., Houtkooper, R. H., de Vries, M. C. & van Karnebeek, C. D. M., 1 Jun 2022, In: Molecular genetics and metabolism reports. 31, 100873.

    Research output: Contribution to journalArticleAcademicpeer-review

  9. 3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC–MS/MS method

    Sasarman, F., Ferdinandusse, S., Sinasac, D. S., Fung, E., Sparkes, R., Reeves, M., Rombough, C., Sass, J. R. O., Voit, R., Ruiter, J. P. N., Koster, J., Waterham, H. R., Pasquini, E., Donati, M. A., Marquardt, T., Wanders, R. J. A. & Al-Hertani, W., May 2022, In: Journal of inherited metabolic disease. 45, 3, p. 445-455 11 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  10. A mild case of sodium-dependent multivitamin transporter (SMVT) deficiency illustrating the importance of treatment response in variant classification

    Hauth, I., Waterham, H. R., Wanders, R. J. A., van der Crabben, S. N. & van Karnebeek, C. D. M., 1 Feb 2022, In: Cold Spring Harbor molecular case studies. 8, 2, a006185.

    Research output: Contribution to journalArticleAcademicpeer-review

  11. 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

  12. An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio

    Vaz, F. M., van Lenthe, H., Vervaart, M. A. T., Stet, F. S., Klinkspoor, J. H., Vernon, H. J., Goorden, S. M. I., Houtkooper, R. H., Kulik, W. & Wanders, R. J. A., Jan 2022, In: Journal of inherited metabolic disease. 45, 1, p. 29-37 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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