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Tofacitinib treatment for psoriatic skin lesions associated with Aicardi-Goutières syndrome 7/Singleton-Merten syndrome 1
Beerepoot, S., Grinwis, L., Vanderver, A. L., van der Knaap, M. S. & Kuijpers, T. W., 1 Dec 2025, In: Orphanet Journal of Rare Diseases. 20, 1, p. 1-4 4 p., 155.Research output: Contribution to journal › Comment/Letter to the editor › Academic
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ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy
Beerepoot, S., Schoenmakers, D. H., Fumagalli, F., Groeschel, S., Schöls, L., Schiffmann, R., Wong, S., Boespflug-Tanguy, O., Sevin, C., Nadjar, Y., Bley, A., Mochel, F., Horn, M. A., Baldoli, C., Locatelli, S., Hengel, H., Laugwitz, L., Hollak, C. E. M., Gieselmann, V. & van der Knaap, M. S. & 1 others, , Sept 2025, In: Journal of inherited metabolic disease. 48, 5, p. 1-15 15 p., e70072.Research output: Contribution to journal › Article › Academic › peer-review
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Hematopoietic Stem Cell Transplantation in an International Cohort of Colony Stimulating Factor-1 Receptor (CSF1R)-Related Disorder
Yska, H. A. F., Golse, M., Beerepoot, S., Hayer, S., Bergner, C., de Paiva, A. R. B., Marelli, C., Palacios, N. J., Osorio, Y. L., Huiban, C., Franke, G., Wortmann, F., Holtick, U., Ayrignac, X., van der Knaap, M. S., Schöls, L., Perlbarg, V., Galanaud, D., de Witte, M. A. & Wolf, N. I. & 3 others, , Sept 2025, In: Movement Disorders. 40, 9, p. 1826-1835 10 p.Research output: Contribution to journal › Article › Academic › peer-review
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