-
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
-
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
-
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
- All publications
-
Sex-specific newborn screening for X-linked adrenoleukodystrophy
Albersen, M., van der Beek, S. L., Dijkstra, I. M. E., Alders, M., Barendsen, R. W., Bliek, J., Boelen, A., Ebberink, M. S., Ferdinandusse, S., Goorden, S. M. I., Heijboer, A. C., Jansen, M., Jaspers, Y. R. J., Metgod, I., Salomons, G. S., Vaz, F. M., Verschoof-Puite, R. K., Visser, W. F., Dekkers, E., Engelen, M., & 1 others , 17 Jan 2023, In: Journal of Inherited Metabolic Disease. 46, 1, p. 116-128 13 p.Research output: Contribution to journal › Article › Academic › peer-review
-
VUS: Variant of uncertain significance or very unclear situation?
Kemp, S., Orsini, J. J., Ebberink, M. S., Engelen, M. & Lund, T. C., 2023, (E-pub ahead of print) In: Molecular Genetics and Metabolism. 107678.Research output: Contribution to journal › Comment/Letter to the editor › Academic
-
Clinical complexity and impact of the ABC (Atrial fibrillation Better Care) pathway in patients with atrial fibrillation: a report from the ESC-EHRA EURObservational Research Programme in AF General Long-Term Registry
on behalf of the ESC-EHRA EORP-AF General Long-Term Registry Investigators, 1 Dec 2022, In: BMC medicine. 20, 1, 326.Research output: Contribution to journal › Article › Academic › peer-review
- All publications