Projects per year
Personal profile
Collaborations and top research areas from the last five years
Projects
- 2 Active
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Groothoff J.W.: End-stage Renal Insufficiency in Children
Groothoff, J., Grootenhuis, M., Jager, K., Kuipers, I., van der Lee, H., Oosterveld, M., Wijburg, F., Garrelfs, S., Luirink, I. & Wanders, D. R. J. A.
1/05/2012 → …
Project: Research
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Wijburg F.A.: inborn errors of metabolism in pediatrics: clinical, pathophysiological and therapeutic studies
van de Beek, M., Bleeker, J., Garrelfs, S., Knottnerus, S., Kuiper, G., Meijer, O., Nijmeijer, S., Welling, L., Wijburg, F. & Bosch, A.
1/06/2006 → …
Project: Research
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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
19 Citations (Scopus) -
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
26 Citations (Scopus) -
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
98 Citations (Scopus) -
Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type C
Wijburg, F. A., Sedel, F., Pineda, M., Hendriksz, C. J., Fahey, M., Walterfang, M., Patterson, M. C., Wraith, J. E. & Kolb, S. A., 2012, In: Neurology. 78, 20, p. 1560-1567Research output: Contribution to journal › Article › Academic › peer-review
128 Citations (Scopus) -
Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure
de Ru, M. H., Boelens, J. J., Das, A. M., Jones, S. A., van der Lee, J. H., Mahlaoui, N., Mengel, E., Offringa, M., O'Meara, A., Parini, R., Rovelli, A., Sykora, K. W., Valayannopoulos, V., Vellodi, A., Wynn, R. F. & Wijburg, F. A., 2011, In: Orphanet Journal of Rare Diseases. 6, 1, p. 55 9 p., 55.Research output: Contribution to journal › Article › Academic › peer-review
Open Access195 Citations (Scopus)
Datasets
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Clinical characteristics PCD
Crefcoeur, L. L. (Creator), Visser, G. (Creator), Ferdinandusse, S. (Creator), Wijburg, F. (Creator), Langeveld, M. (Creator), Sjouke, B. (Creator) & Sjouke, B. (Creator), University of Amsterdam / Amsterdam University of Applied Sciences, 2022
DOI: 10.21942/uva.17722598, https://uvaauas.figshare.com/articles/dataset/Clinical_characteristics_PCD/17722598
Dataset
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Clinical characteristics PCD
Crefcoeur, L. L. (Creator), Visser, G. (Creator), Ferdinandusse, S. (Creator), Wijburg, F. (Creator), Langeveld, M. (Creator), Sjouke, B. (Creator) & Sjouke, B. (Creator), University of Amsterdam / Amsterdam University of Applied Sciences, 2022
DOI: 10.21942/uva.17722598.v1, https://uvaauas.figshare.com/articles/dataset/Clinical_characteristics_PCD/17722598/1
Dataset