PI
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Newborn Screening for Lysosomal Storage Disorders: Quo Vadis?
Peake, R. W. A., Marsden, D. L., Bodamer, O. A., Gelb, M. H., Millington, D. S. & Wijburg, F., 2016, In: Clinical Chemistry. 62, 11, p. 1430-1438Research output: Contribution to journal › Editorial › Academic › peer-review
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Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation
Langereis, E. J., den Os, M. M., Breen, C., Jones, S. A., Knaven, O. C., Mercer, J., Miller, W. P., Kelly, P. M., Kennedy, J., Ketterl, T. G., O'Meara, A., Orchard, P. J., Lund, T. C., van Rijn, R. R., Sakkers, R. J., White, K. K. & Wijburg, F. A., 2016, In: Journal of bone and joint surgery. American volume. 98A, 5, p. 386-395Research output: Contribution to journal › Article › Academic › peer-review
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Genistein in Sanfilippo disease: A randomized controlled crossover trial
de Ruijter, J., Valstar, M. J., Narajczyk, M., Wegrzyn, G., Kulik, W., Ijlst, L., Wagemans, T., van der Wal, W. M. & Wijburg, F. A., 2012, In: Annals of neurology. 71, 1, p. 110-120Research output: Contribution to journal › Article › Academic › peer-review
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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
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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., & 31 others, 1 Apr 2024, In: Genetics in medicine. 26, 4, 101039.Research output: Contribution to journal › Article › Academic › peer-review
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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
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