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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. Among authors: van gennip ah, van lenthe h, van cruchten a. 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
Detection of nonsterol isoprenoids by HPLC-MS/MS.
Henneman L, van Cruchten AG, Denis SW, Amolins MW, Placzek AT, Gibbs RA, Kulik W, Waterham HR. Henneman L, et al. Among authors: van cruchten ag. Anal Biochem. 2008 Dec 1;383(1):18-24. doi: 10.1016/j.ab.2008.08.023. Epub 2008 Aug 30. Anal Biochem. 2008. PMID: 18782552 Free PMC article.
Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate esters.
Dercksen M, IJlst L, Duran M, Mienie LJ, van Cruchten A, van der Westhuizen FH, Wanders RJ. Dercksen M, et al. Among authors: van cruchten a. Biochim Biophys Acta. 2014 Dec;1842(12 Pt A):2510-6. doi: 10.1016/j.bbadis.2013.04.027. Epub 2013 May 2. Biochim Biophys Acta. 2014. PMID: 23643712 Free article.
The application of HPLC/ESI tandem mass spectrometry on urine-soaked filter-paper strips for the screening of disorders of purine and pyrimidine metabolism.
Ito T, van Kuilenburg AB, Bootsma AH, Haasnoot AJ, van Cruchten A, Wada Y, van Gennip AH. Ito T, et al. Among authors: van gennip ah, van kuilenburg ab, van cruchten a. J Inherit Metab Dis. 2000 Jun;23(4):434-7. doi: 10.1023/a:1005628624520. J Inherit Metab Dis. 2000. PMID: 10896312 No abstract available.
27 results