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Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature.
Voorink-Moret M, Goorden SMI, van Kuilenburg ABP, Wijburg FA, Ghauharali-van der Vlugt JMM, Beers-Stet FS, Zoetekouw A, Kulik W, Hollak CEM, Vaz FM. Voorink-Moret M, et al. Among authors: van kuilenburg abp. Mol Genet Metab. 2018 Feb;123(2):76-84. doi: 10.1016/j.ymgme.2017.12.431. Epub 2017 Dec 22. Mol Genet Metab. 2018. PMID: 29290526
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.
van Kuilenburg AB, Meinsma R, Beke E, Assmann B, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NG, van Cruchten A, Stroomer AE, van Lenthe H, Zoetekouw L, Kulik W, Hoffmann GF, Voit T, Wevers RA, Rutsch F, van Gennip AH. van Kuilenburg AB, et al. Hum Mol Genet. 2004 Nov 15;13(22):2793-801. doi: 10.1093/hmg/ddh303. Epub 2004 Sep 22. Hum Mol Genet. 2004. PMID: 15385443
Hydrogen sulfide donor NaHS reduces organ injury in a rat model of pneumococcal pneumosepsis, associated with improved bio-energetic status.
Aslami H, Pulskens WP, Kuipers MT, Bos AP, van Kuilenburg AB, Wanders RJ, Roelofsen J, Roelofs JJ, Kerindongo RP, Beurskens CJ, Schultz MJ, Kulik W, Weber NC, Juffermans NP. Aslami H, et al. PLoS One. 2013 May 23;8(5):e63497. doi: 10.1371/journal.pone.0063497. Print 2013. PLoS One. 2013. PMID: 23717435 Free PMC article.
185 results