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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 , 17 Jun 2020, In: Frontiers in cell and developmental biology. 8, 499.Research output: Contribution to journal › Article › Academic › peer-review
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Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history
Kemp, S., Huffnagel, I. C., Linthorst, G. E., Wanders, R. J. & Engelen, M., 2016, In: Nature reviews. Endocrinology. 12, 10, p. 606-615Research output: Contribution to journal › Review article › Academic › peer-review
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Multi-Omic Approach to Identify Phenotypic Modifiers Underlying Cerebral Demyelination in X-Linked Adrenoleukodystrophy
Richmond, P., van der Kloet, F. M., Vaz, F., Lin, D., Uzozie, A., Graham, E., Kobor, M., Mostafavi, S., Moerland, P., van Kampen, A., Wasserman, W., Engelen, M., Kemp, S., van Karnebeek, C., Richmond, P. A. & Lange, P. F., 25 Jun 2020, In: Frontiers in cell and developmental biology. 8, 520.Research output: Contribution to journal › Article › Academic › peer-review
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ABCD1 Transporter Deficiency Results in Altered Cholesterol Homeostasis
Buda, A., Forss-Petter, S., Hua, R., Jaspers, Y., Lassnig, M., Waidhofer-Söllner, P., Kemp, S., Kim, P., Weinhofer, I. & Berger, J., 1 Sept 2023, In: BIOMOLECULES. 13, 9, 1333.Research output: Contribution to journal › Article › Academic › peer-review
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Attitudes of Patients with Adrenoleukodystrophy towards Sex-Specific Newborn Screening
Yska, H. A. F., Henneman, L., Barendsen, R. W., Engelen, M. & Kemp, S., 1 Sept 2023, In: International Journal of Neonatal Screening. 9, 3, 51.Research output: Contribution to journal › Article › Academic › peer-review
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VUS: Variant of uncertain significance or very unclear situation?
Kemp, S., Orsini, J. J., Ebberink, M. S., Engelen, M. & Lund, T. C., 1 Sept 2023, In: Molecular Genetics and Metabolism. 140, 1-2, 107678.Research output: Contribution to journal › Comment/Letter to the editor › Academic
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