Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure

Autor: Perez-Torras S, Mata-Ventosa A, Drögemöller B, Tarailo-Graovac M, Meijer J, Meinsma R, van Cruchten AG, Kulik W, Viel-Oliva A, Bidon-Chanal A, Ross CJ, Wassermann WW, van Karnebeek CDM, Pastor-Anglada M, van Kuilenburg ABP

Publikováno v: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

Pyrimidine nucleotides are essential for a vast number of cellular processes and dysregulation of pyrimidine metabolism has been associated with a variety of clinical abnormalities. Inborn errors of pyrimidine metabolism affecting enzymes in the pyri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::405c6c09d9677c3020b542381fa50593
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=15620

Determination of 13C and 15N enrichments of urea in plasma by gas chromatography–combustion isotope ratio mass spectrometry and gas chromatography–mass spectrometry using the 2-methoxypyrimidine derivative

Autor: Kulik, W. ^∗, Oosterveld, M.J.S., Kok, R.M., de Meer, K.

Publikováno v: In Journal of Chromatography B 2003 791(1):399-405

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Systemic tryptophan and kynurenine catabolite levels relate to severity of rhinovirus-induced asthma exacerbation: a prospective study with a parallel-group design

Autor: van der Sluijs, K. F., van de Pol, M. A., Kulik, W., Dijkhuis, A., Smids, B. S., van Eijk, H. W., Karlas, J. A., Molenkamp, R., Wolthers, K. C., Johnston, S. L., van der Zee, J. S., Sterk, P. J., Lutter, R., Berger, M., Fens, N., Yick, D., Wagener, A. H., Amelink, M., Reesink, H. J., Bresser, P., Kunst, P. W. A., Venekamp, L. N., Majoor, C. J., van Steenwijk, R. P., Jonkers, R. E.

Publikováno v: Thorax
Thorax, 68(12), 1122-1130. BMJ Publishing Group

Background Patients with allergic asthma have exacerbations which are frequently caused by rhinovirus infection. The antiviral tryptophan-catabolising enzyme indoleamine 2,3-dioxygenase (IDO) is induced by interferon-γ and suppressed by Th2 mediator

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc472609eca13fa50ec01a3c21ce25ea
https://doi.org/10.1136/thoraxjnl-2013-203728

Chenodeoxycholic acid reduces intestinal permeability in newly weaned piglets

Autor: van der Meer, Y., Gerrits, W. J. J., van den Bosch, M., Holst, J. J., Moreto, M., Buurman, W. A., Kulik, W., van Kempen, T. A. T. G.

Publikováno v: Journal of Animal Science 90 (2012) supplement 4
Journal of Animal Science, 90(supplement 4), 302-304
Journal of Animal Science, 90(Supplement 4), 302-304. American Society of Animal Science
Journal of animal science, 90(4), 302-304. American Society of Animal Science

Piglets are highly susceptible to gut health-related problems. Intravenously administered chenodeoxycholic acid (CDCA) affects gut health mediated through glucagon-like peptide 2 (GLP-2). To test whether CDCA is a suitable feed additive for improving

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::32ea1c258aa230ff0c5348126a9eac4c
https://research.wur.nl/en/publications/chenodeoxycholic-acid-reduces-intestinal-permeability-in-newly-we