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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 AG, Kulik W, Viel-Oliva A, Bidon-Chanal A, Ross CJ, Wassermann WW, van Karnebeek CDM, Pastor-Anglada M, van Kuilenburg ABP. Pérez-Torras S, et al. Among authors: van cruchten ag. Biochim Biophys Acta Mol Basis Dis. 2019 Jun 1;1865(6):1182-1191. doi: 10.1016/j.bbadis.2019.01.013. Epub 2019 Jan 15. Biochim Biophys Acta Mol Basis Dis. 2019. PMID: 30658162 Free article.
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.
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