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Page 1
Autosomal recessive cutis laxa syndrome revisited.
Morava E, Guillard M, Lefeber DJ, Wevers RA. Morava E, et al. Eur J Hum Genet. 2009 Sep;17(9):1099-110. doi: 10.1038/ejhg.2009.22. Epub 2009 Apr 29. Eur J Hum Genet. 2009. PMID: 19401719 Free PMC article. Review.
Metabolic cutis laxa syndromes.
Mohamed M, Kouwenberg D, Gardeitchik T, Kornak U, Wevers RA, Morava E. Mohamed M, et al. Among authors: morava e. J Inherit Metab Dis. 2011 Aug;34(4):907-16. doi: 10.1007/s10545-011-9305-9. Epub 2011 Mar 23. J Inherit Metab Dis. 2011. PMID: 21431621 Free PMC article. Review.
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.
Gardeitchik T, Mohamed M, Fischer B, Lammens M, Lefeber D, Lace B, Parker M, Kim KJ, Lim BC, Häberle J, Garavelli L, Jagadeesh S, Kariminejad A, Guerra D, Leão M, Keski-Filppula R, Brunner H, Nijtmans L, van den Heuvel B, Wevers R, Kornak U, Morava E. Gardeitchik T, et al. Among authors: morava e. Eur J Hum Genet. 2014 Jul;22(7):888-95. doi: 10.1038/ejhg.2013.154. Epub 2013 Aug 21. Eur J Hum Genet. 2014. PMID: 23963297 Free PMC article.
Cutis Laxa.
Mohamed M, Voet M, Gardeitchik T, Morava E. Mohamed M, et al. Among authors: morava e. Adv Exp Med Biol. 2014;802:161-84. doi: 10.1007/978-94-007-7893-1_11. Adv Exp Med Biol. 2014. PMID: 24443027 Review.
Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa.
Mohamed M, Gardeitchik T, Balasubramaniam S, Guerrero-Castillo S, Dalloyaux D, van Kraaij S, Venselaar H, Hoischen A, Urban Z, Brandt U, Al-Shawi R, Simons JP, Frison M, Ngu LH, Callewaert B, Spelbrink H, Kallemeijn WW, Aerts JMFG, Waugh MG, Morava E, Wevers RA. Mohamed M, et al. Among authors: morava e. J Inherit Metab Dis. 2020 Nov;43(6):1382-1391. doi: 10.1002/jimd.12255. Epub 2020 Jun 26. J Inherit Metab Dis. 2020. PMID: 32418222 Free PMC article.
A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics.
Wopereis S, Morava E, Grünewald S, Mills PB, Winchester BG, Clayton P, Coucke P, Huijben KM, Wevers RA. Wopereis S, et al. Among authors: morava e. Biochim Biophys Acta. 2005 Jun 30;1741(1-2):156-64. doi: 10.1016/j.bbadis.2004.11.009. Epub 2004 Dec 9. Biochim Biophys Acta. 2005. PMID: 15955459 Free article.
Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa.
Guillard M, Dimopoulou A, Fischer B, Morava E, Lefeber DJ, Kornak U, Wevers RA. Guillard M, et al. Among authors: morava e. Biochim Biophys Acta. 2009 Sep;1792(9):903-14. doi: 10.1016/j.bbadis.2008.12.009. Epub 2009 Jan 8. Biochim Biophys Acta. 2009. PMID: 19171192 Free article. Review.
440 results