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3,753 results

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Page 1
Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression.
Achouitar S, Mohamed M, Gardeitchik T, Wortmann SB, Sykut-Cegielska J, Ensenauer R, de Baulny HO, Õunap K, Martinelli D, de Vries M, McFarland R, Kouwenberg D, Theodore M, Wijburg F, Grünewald S, Jaeken J, Wevers RA, Nijtmans L, Elson J, Morava E. Achouitar S, et al. Among authors: mohamed m. J Inherit Metab Dis. 2011 Aug;34(4):923-7. doi: 10.1007/s10545-011-9325-5. Epub 2011 May 4. J Inherit Metab Dis. 2011. PMID: 21541726 Free PMC article.
Metabolic cutis laxa syndromes.
Mohamed M, Kouwenberg D, Gardeitchik T, Kornak U, Wevers RA, Morava E. Mohamed M, et al. 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.
Thyroid function in PMM2-CDG: diagnostic approach and proposed management.
Mohamed M, Theodore M, Claahsen-van der Grinten H, van Herwaarden AE, Huijben K, van Dongen L, Kouwenberg D, Lefeber DJ, Wevers RA, Morava E. Mohamed M, et al. Mol Genet Metab. 2012 Apr;105(4):681-3. doi: 10.1016/j.ymgme.2012.02.001. Epub 2012 Feb 13. Mol Genet Metab. 2012. PMID: 22386715
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. 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.
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. 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.
Thrombotic complications in patients with PMM2-CDG.
Linssen M, Mohamed M, Wevers RA, Lefeber DJ, Morava E. Linssen M, et al. Among authors: mohamed m. Mol Genet Metab. 2013 May;109(1):107-11. doi: 10.1016/j.ymgme.2013.02.006. Epub 2013 Feb 16. Mol Genet Metab. 2013. PMID: 23499581
Socio-emotional Problems in Children with CDG.
van de Loo KF, van Dongen L, Mohamed M, Gardeitchik T, Kouwenberg TW, Wortmann SB, Rodenburg RJ, Lefeber DJ, Morava E, Verhaak CM. van de Loo KF, et al. Among authors: mohamed m. JIMD Rep. 2013;11:139-48. doi: 10.1007/8904_2013_233. Epub 2013 Jun 4. JIMD Rep. 2013. PMID: 23733602 Free PMC article.
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Balasubramaniam S, Riley LG, Bratkovic D, Ketteridge D, Manton N, Cowley MJ, Gayevskiy V, Roscioli T, Mohamed M, Gardeitchik T, Morava E, Christodoulou J. Balasubramaniam S, et al. Among authors: mohamed m. J Inherit Metab Dis. 2017 Sep;40(5):745-747. doi: 10.1007/s10545-017-0036-4. Epub 2017 Apr 13. J Inherit Metab Dis. 2017. PMID: 28409271
Perinatal and early infantile symptoms in congenital disorders of glycosylation.
Funke S, Gardeitchik T, Kouwenberg D, Mohamed M, Wortmann SB, Korsch E, Adamowicz M, Al-Gazali L, Wevers RA, Horvath A, Lefeber DJ, Morava E. Funke S, et al. Among authors: mohamed m. Am J Med Genet A. 2013 Mar;161A(3):578-84. doi: 10.1002/ajmg.a.35702. Epub 2013 Feb 7. Am J Med Genet A. 2013. PMID: 23401092
3,753 results