Projects per year
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Projects
- 1 Active
-
van Kuilenburg A.B.P.: Inborn errors of purine and pyrimidine metabolism and pediatric oncological diseases
Besancon, O., van Kuilenburg, A., Leen, R., Jansen - Meijer, J., Meinsma, R. & van Staveren, M.
1/06/2016 → …
Project: Research
-
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders
van Karnebeek, C. D. M., Tarailo-Graovac, M., Leen, R., Meinsma, R., Correard, S., Jansen-Meijer, J., Prykhozhij, S. V., Pena, I. A., Ban, K., Schock, S., Saxena, V., Pras-Raves, M. L., Drögemöller, B. I., Grootemaat, A. E., van der Wel, N. N., Dobritzsch, D., Roseboom, W., Schomakers, B. V., Jaspers, Y. R. J., Zoetekouw, L., & 23 others, 1 Jun 2024, In: Genetics in medicine. 26, 6, 101104.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Children with atopic dermatitis show increased activity of β-glucocerebrosidase and stratum corneum levels of glucosylcholesterol that are strongly related to the local cytokine milieu
Kezic, S., McAleer, M. A., Jakasa, I., Goorden, S. M. I., der Vlugt, K. G. V., Beers-Stet, F. S., Meijer, J., Roelofsen, J., Nieman, M. M., van Kuilenburg, A. B. P. & Irvine, A. D., Jun 2022, In: British Journal of Dermatology. 186, 6, p. 988-996 9 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access9 Citations (Scopus) -
β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity
Dobritzsch, D., Meijer, J., Meinsma, R., Maurer, D., Monavari, A. A., Gummesson, A., Reims, A., Cayuela, J. A., Kuklina, N., Benoist, J-F., Perrin, L., Assmann, B., Hoffmann, G. F., Bierau, J. R., Kaindl, A. M. & van Kuilenburg, A. B. P., Jul 2022, In: Molecular Genetics and Metabolism. 136, 3, p. 177-185 9 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access4 Citations (Scopus) -
Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure
Pérez-Torras, S., Mata-Ventosa, A., Drögemöller, B., Tarailo-Graovac, M., Meijer, J., Meinsma, R., van Cruchten, A. G., Kulik, W., Viel-Oliva, A., Bidon-Chanal, A., Ross, C. J., Wassermann, W. W., van Karnebeek, C. D. M., Pastor-Anglada, M. & van Kuilenburg, A. B. P., 1 Jun 2019, In: Biochimica et Biophysica Acta-Molecular Basis of Disease. 1865, 6, p. 1182-1191 10 p.Research output: Contribution to journal › Article › Academic › peer-review
8 Citations (Scopus) -
Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1
van Kuilenburg, A. B. P., Meijer, J., Meinsma, R., Pérez-Dueñas, B., Alders, M., Bhuiyan, Z. A., Artuch, R. & Hennekam, R. C. M., 2019, In: JIMD reports. 45, p. 65-69 5 p.Research output: Contribution to journal › Article › Academic › peer-review
2 Citations (Scopus)
Datasets
-
Crystal structure of human hypoxanthine-guanine phosphoribosyltransferase in complex with 6-fluoro-3-hydroxy-2-pyrazinecarboxamide (T-705) ribose-5'-monophosphate
Naesens, L. (Contributor), Guddat, L. W. (Contributor), Keough, D. T. (Contributor), van Kuilenburg, A. (Contributor), Jansen - Meijer, J. (Contributor), Vande Voorde, J. (Contributor) & Balzarini, J. (Contributor), Protein Data Bank (PDB), 14 Aug 2013
DOI: 10.2210/pdb4KN6, https://www.wwpdb.org/pdb?id=pdb_00004kn6
Dataset