1. 2021
  2. Biochemical studies in fibroblasts to interpret variants of unknown significance in the abcd1 gene

    van de Stadt, S. I. W., Mooyer, P. A. W., Dijkstra, I. M. E., Dekker, C. J. M., Vats, D., Vera, M., Ruzhnikov, M. R. Z., van Haren, K., Tang, N., Koop, K., Willemsen, M. A., Hui, J., Vaz, F. M., Ebberink, M. S., Engelen, M., Kemp, S. & Ferdinandusse, S., 1 Dec 2021, In: Genes. 12, 12, 1930.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy

    Raas, Q., van de Beek, M-C., Forss-Petter, S., Dijkstra, I. M. E., Deschiffart, A., Freshner, B. C., Stevenson, T. J., Jaspers, Y. R. J., Nagtzaam, L., Wanders, R. J. A., van Weeghe, M., Engelen-Lee, J-Y., Engelen, M., Eichler, F., Berger, J., Bonkowsky, J. L. & Kemp, S., 15 Apr 2021, In: Journal of clinical investigation. 131, 8, e142500.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Corrigendum: Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor (Frontiers in Cell and Developmental Biology, (2020), 8, (499), 10.3389/fcell.2020.00499)

    Barendsen, R. W., Dijkstra, I. M. E., Visser, W. F., Alders, M., Bliek, J., Boelen, A., Bouva, M. J., van der Crabben, S. N., Elsinghorst, E., van Gorp, A. G. M., Heijboer, A. C., Jansen, M., Jaspers, Y. R. J., van Lenthe, H., Metgod, I., Mooij, C. F., van der Sluijs, E. H. C., van Trotsenburg, A. S. P., Verschoof-Puite, R. K., Vaz, F. M. & 5 others, Waterham, H. R., Wijburg, F. A., Engelen, M., Dekkers, E. & Kemp, S., 28 Jan 2021, In: Frontiers in cell and developmental biology. 9, 631655.

    Research output: Contribution to journalComment/Letter to the editorAcademic

  5. 2020
  6. Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

    Barendsen, R. W., Dijkstra, I. M. E., Visser, W. F., Alders, M., Bliek, J., Boelen, A., Bouva, M. J., van der Crabben, S. N., Elsinghorst, E., van Gorp, A. G. M., Heijboer, A. C., Jansen, M., Jaspers, Y. R. J., van Lenthe, H., Metgod, I., Mooij, C. F., van der Sluijs, E. H. C., van Trotsenburg, A. S. P., Verschoof-Puite, R. K., Vaz, F. M. & 5 others, Waterham, H. R., Wijburg, F. A., Engelen, M., Dekkers, E. & Kemp, S., 17 Jun 2020, In: Frontiers in cell and developmental biology. 8, 499.

    Research output: Contribution to journalArticleAcademicpeer-review

  7. 2017
  8. Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy

    Huffnagel, I. C., van de Beek, M-C., Showers, A. L., Orsini, J. J., Klouwer, F. C. C., Dijkstra, I. M. E., Schielen, P. C., van Lenthe, H., Wanders, R. J. A., Vaz, F. M., Morrissey, M. A., Engelen, M. & Kemp, S., 2017, In: Molecular genetics and metabolism. 122, 4, p. 209-215

    Research output: Contribution to journalArticleAcademicpeer-review

  9. Method for Measurement of Peroxisomal Very Long-Chain Fatty Acid Beta-Oxidation and De Novo C26:0 Synthesis Activity in Living Cells Using Stable-Isotope Labeled Docosanoic Acid

    van de Beek, M-C., Dijkstra, I. M. E. & Kemp, S., 2017, In: Methods in molecular biology (Clifton, N.J.). 1595, p. 45-54

    Research output: Contribution to journalArticleAcademicpeer-review

  10. 2016
  11. C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man

    van de Beek, M-C., Dijkstra, I. M. E., van Lenthe, H., Ofman, R., Goldhaber-Pasillas, D., Schauer, N., Schackmann, M., Engelen-Lee, J-Y., Vaz, F. M., Kulik, W., Wanders, R. J. A., Engelen, M. & Kemp, S., 2016, In: PLoS ONE. 11, 4, p. e0154597

    Research output: Contribution to journalArticleAcademicpeer-review

  12. CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids

    van Engen, C. E., Ofman, R., Dijkstra, I. M. E., van Goethem, T. J., Verheij, E., Varin, J., Vidaud, M., Wanders, R. J. A., Aubourg, P., Kemp, S. & Barbier, M., 2016, In: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. 1862, 10, p. 1861-1870

    Research output: Contribution to journalArticleAcademicpeer-review

  13. Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics

    Schackmann, M. J. A., Ofman, R., van Geel, B. M., Dijkstra, I. M. E., van Engelen, K., Wanders, R. J. A., Engelen, M. & Kemp, S., 2016, In: Molecular genetics and metabolism. 118, 2, p. 123-127

    Research output: Contribution to journalArticleAcademicpeer-review

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