PI
Amsterdam Reproduction & Development
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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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A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening
Veldman, A., Kiewiet, M. B. G., Westra, D., Bosch, A. M., Brands, M. M. G., de Coo, R. I. F. M., Derks, T. G. J., Fuchs, S. A., van den Hout, J. M. P., Huidekoper, H. H., Kluijtmans, L. A. J., Koop, K., Lubout, C. M. A., Mulder, M. F., Panis, B., Rubio-Gozalbo, M. E., de Sain-van der Velden, M. G., Schaefers, J., Schreuder, A. B., Visser, G., & 4 others , 1 Dec 2023, In: International Journal of Neonatal Screening. 9, 4, 56.Research output: Contribution to journal › Article › Academic › peer-review
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Newborn screening for primary carnitine deficiency: Who will benefit? - A retrospective cohort study
Crefcoeur, L., Ferdinandusse, S., van der Crabben, S. N., Dekkers, E., Fuchs, S. A., Huidekoper, H., Janssen, M., Langendonk, J., Maase, R., de Sain, M., Rubio, E., van Spronsen, F. J., Vaz, F. M., Verschoof, R., de Vries, M., Wijburg, F., Visser, G. & Langeveld, M., 1 Dec 2023, In: Journal of medical genetics. 60, 12, p. 1177-1185 9 p., jmg-2023-109206.Research output: Contribution to journal › Article › Academic › peer-review
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