Projects per year
Collaborations and top research areas from the last five years
Profiles
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Ryan Aukes
- Paediatric Metabolic Diseases (AMC) - MD-PhD
- Infectious diseases (AMC) - MD-PhD
- Amsterdam Gastroenterology Endocrinology Metabolism (AMC)
Person: Academic
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Annet Bosch
- Amsterdam Gastroenterology Endocrinology Metabolism (AMC) - Medical Specialist
- Paediatric Metabolic Diseases (AMC) - Full Professor
- AR&D - Amsterdam Reproduction & Development
Person: Academic
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Sibbeliene van den Bosch
- Paediatric Metabolic Diseases (AMC) - MD-PhD
- Doctoral School - Standard PhD Candidate
- Amsterdam Gastroenterology Endocrinology Metabolism (AMC) - Standard PhD Candidate
Person: Academic
Projects
- 3 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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Hollak C.E.M.: Natural history, pathophysiology and treatment of lysosomal storage disorders
Hollak, C., Biegstraaten, M., Linthorst, G., Arends, M., Guimaraes da Lomba Ferraz, M., Korver, S., Regenboog, M., Schuller, Y., Welling, L. & Zada, A.
1/01/2007 → …
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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Brain function in classic galactosemia, a galactosemia network (GalNet) members review
Panis, B., Vos, E. N., Barić, I., Bosch, A. M., Brouwers, M. C. G. J., Burlina, A., Cassiman, D., Coman, D. J., Couce, M. L., Das, A. M., Demirbas, D., Empain, A., Gautschi, M., Grafakou, O., Grunewald, S., Kingma, S. D. K., Knerr, I., Leão-Teles, E., Möslinger, D., Murphy, E., & 15 others , 2024, In: Frontiers in genetics. 15, 1355962.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Breaking the chains of lipoprotein lipase deficiency: A pediatric perspective on the efficacy and safety of Volanesorsen
den Hollander, B., Brands, M. M., Nijhuis, I. J. M., Doude van Troostwijk, L. J. A. E., van Essen, P., Hofsteenge, A. H., Koot, B. G., Müller, A. R., Tseng, L. A., Stroes, E. S. G., van de Ven, P. M., Wiegman, A. & van Karnebeek, C. D. M., May 2024, In: Molecular Genetics and Metabolism. 142, 1, p. 108347 108347.Research 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
Open Access
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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Supplementary Material for: Improving the Dutch Newborn Screening for Central Congenital Hypothyroidism by Using 95% Reference Intervals for Thyroxine-Binding Globulin
Stroek, K. (Creator), Heijboer, A. (Creator), Bosch, A. (Creator), Zwaveling-Soonawala, N. (Creator), Boelen, A. (Creator) & Bosch, A. M. (Creator), Karger Publishers, 2021
DOI: 10.6084/m9.figshare.14169713.v1, https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Improving_the_Dutch_Newborn_Screening_for_Central_Congenital_Hypothyroidism_by_Using_95_Reference_Intervals_for_Thyroxine-Binding_Globulin/14169713/1
Dataset
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Supplementary Material for: Improving the Dutch Newborn Screening for Central Congenital Hypothyroidism by Using 95% Reference Intervals for Thyroxine-Binding Globulin
Stroek, K. (Creator), Heijboer, A. (Creator), Bosch, A. (Creator), Zwaveling-Soonawala, N. (Creator), Boelen, A. (Creator) & Bosch, A. M. (Creator), Karger Publishers, 2021
DOI: 10.6084/m9.figshare.14169713, https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Improving_the_Dutch_Newborn_Screening_for_Central_Congenital_Hypothyroidism_by_Using_95_Reference_Intervals_for_Thyroxine-Binding_Globulin/14169713
Dataset
Activities
- 1 Oral presentation
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Verbinding, Versnelling, Verandering
Clara D. van Karnebeek (Speaker)
8 Apr 2022Activity: Lecture / Presentation › Oral presentation › Academic