Projects per year
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Collaborations and top research areas from the last five years
Projects
- 5 Finished
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Voorzetting onderzoek Sanfilippo: Voorzetting onderzoek Sanfilippo
Bosch, A. (Principal investigator) & Wijburg, F. (Project Member)
01/02/2024 → 01/02/2025
Project: Research
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Cannabidiol (CDB olie): Cannabidiol (CBD olie) voor de behandeling van gedragsproblemen bij patiënten met Sanfilippo
Wijburg, F. (Project Leader)
01/01/2022 → 31/12/2023
Project: Research
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EMDR: EMDR en preconceptie screening
Wijburg, F. (Project Leader)
01/01/2022 → 31/12/2023
Project: Research
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SOBI003-001: An open, non-controlled, parallel, ascending multiple-dose, multicenter study to assess the safety, tolerability, pharmacokinetics and pharmacodynamics of SOBI003 in pediatric MPS IIIA patients
Wijburg, F. (Project Leader)
Swedish Orphan Biovitrum BVBA/SPRL
01/01/2020 → 01/01/2021
Project: Research
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Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study
Balfoort, B. M., van den Broeck, F., Boon, C. J. F., Brouwers, M. C. G. J., Diederen, R. M. H., Dhillon, P. & GACR “Bird's Eye View” Consortium, 1 Jan 2025, In: Journal of inherited metabolic disease. 48, 1, e12842.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Downloads (Pure) -
Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials
Müller, A. R., den Hollander, B., van de Ven, P. M., Roes, K. C. B., Geertjens, L., Bruining, H., van Karnebeek, C. D. M., Jansen, F. E., de Wit, M. C. Y., Ten Hoopen, L. W., Rietman, A. B., Dierckx, B., Wijburg, F. A., Boot, E., Brands, M. M. G. & van Eeghen, A. M., 1 Dec 2024, In: BMC psychiatry. 24, 1, p. 23 23.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Downloads (Pure) -
Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review
Müller, A. R., Boot, E., Notermans, S. B., Schuengel, C., Henneman, L., Cornel, M. C., van Haelst, M. M., Alders, M., van Karnebeek, C. D. M., Bijl, B., Wijburg, F. A. & van Eeghen, A. M., 1 Dec 2024, In: Orphanet journal of rare diseases. 19, 1, 346.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Downloads (Pure) -
Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability
Müller, A. R., van Silfhout, N. Y., den Hollander, B., Kampman, D. H. C., Bakkum, L., Brands, M. M. M. G., Haverman, L., Terwee, C. B., Schuengel, C., Daams, J., Hessl, D., Wijburg, F. A., Boot, E. & van Eeghen, A. M., 1 Jan 2024, In: Therapeutic advances in rare disease. 5, p. 26330040241245721Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Downloads (Pure) -
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
Posset, R., Garbade, S. F., Gleich, F., Scharre, S., Okun, J. R. G., Gropman, A. L., Nagamani, S. C. S., Druck, A.-C., Epp, F., Hoffmann, G. F., Kölker, S., Zielonka, M., Mew, N. A., Seminara, J., Burrage, L. C., Berry, G. T., Breilyn, M., Schulze, A., Harding, C. O. & Berry, S. A. & 39 others, , 1 Apr 2024, In: Genetics in medicine. 26, 4, 101039.Research output: Contribution to journal › Article › Academic › peer-review
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