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Iodotyrosine deiodinase defect identified via genome-wide approach.
Burniat A, Pirson I, Vilain C, Kulik W, Afink G, Moreno-Reyes R, Corvilain B, Abramowicz M. Burniat A, et al. Among authors: kulik w. J Clin Endocrinol Metab. 2012 Jul;97(7):E1276-83. doi: 10.1210/jc.2011-3314. Epub 2012 Apr 24. J Clin Endocrinol Metab. 2012. PMID: 22535972
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: kulik w. 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.
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: kulik w. 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
118 results