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CDG: a new case of a combined defect in the biosynthesis of N- and O-glycans.
Albahri Z, Marklová E, Dedek P, Hojdíková H, Fiedler Z, Lefeber D, Wevers RA, Morava E, Wopereis S. Albahri Z, et al. Among authors: marklova e. Eur J Pediatr. 2006 Mar;165(3):203-4. doi: 10.1007/s00431-005-0047-2. Epub 2006 Jan 14. Eur J Pediatr. 2006. PMID: 16416133 No abstract available.
Genetic variants of transferrin in cystic fibrosis.
Marklová E, Albahri Z, Vanícek H, Dedek P, Valis M, Kopácová M, Vávrová V. Marklová E, et al. J Inherit Metab Dis. 2008 Jun;31(3):457-61. doi: 10.1007/s10545-008-0733-0. Epub 2008 Feb 22. J Inherit Metab Dis. 2008. PMID: 18344013
Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern.
Mohamed M, Guillard M, Wortmann SB, Cirak S, Marklova E, Michelakakis H, Korsch E, Adamowicz M, Koletzko B, van Spronsen FJ, Niezen-Koning KE, Matthijs G, Gardeitchik T, Kouwenberg D, Lim BC, Zeevaert R, Wevers RA, Lefeber DJ, Morava E. Mohamed M, et al. Among authors: marklova e. Biochim Biophys Acta. 2011 Jun;1812(6):691-8. doi: 10.1016/j.bbadis.2011.02.011. Epub 2011 Mar 17. Biochim Biophys Acta. 2011. PMID: 21362473 Free article.
35 results