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Page 1
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
Witters P, Honzik T, Bauchart E, Altassan R, Pascreau T, Bruneel A, Vuillaumier S, Seta N, Borgel D, Matthijs G, Jaeken J, Meersseman W, Cassiman D, Pascale de L, Morava E. Witters P, et al. Among authors: morava e. Genet Med. 2019 May;21(5):1181-1188. doi: 10.1038/s41436-018-0301-4. Epub 2018 Oct 8. Genet Med. 2019. PMID: 30293989 Free 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. Among authors: morava 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.
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: morava e. 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.
How to find and diagnose a CDG due to defective N-glycosylation.
Lefeber DJ, Morava E, Jaeken J. Lefeber DJ, et al. Among authors: morava e. J Inherit Metab Dis. 2011 Aug;34(4):849-52. doi: 10.1007/s10545-011-9370-0. Epub 2011 Jul 8. J Inherit Metab Dis. 2011. PMID: 21739167 Free PMC article. No abstract available.
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. Among authors: morava e. 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
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.
Hollak CE, de Sonnaville ES, Cassiman D, Linthorst GE, Groener JE, Morava E, Wevers RA, Mannens M, Aerts JM, Meersseman W, Akkerman E, Niezen-Koning KE, Mulder MF, Visser G, Wijburg FA, Lefeber D, Poorthuis BJ. Hollak CE, et al. Among authors: morava e. Mol Genet Metab. 2012 Nov;107(3):526-33. doi: 10.1016/j.ymgme.2012.06.015. Epub 2012 Jun 30. Mol Genet Metab. 2012. PMID: 22818240
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, Passarelli C, Concolino D, Carella M, Santorelli F, Vleugels W, Mercuri E, Garozzo D, Sturiale L, Messina S, Jaeken J, Fiumara A, Wevers RA, Bertini E, Matthijs G, Lefeber DJ. Barone R, et al. Among authors: morava e. Ann Neurol. 2012 Oct;72(4):550-8. doi: 10.1002/ana.23632. Ann Neurol. 2012. PMID: 23109149
Thrombotic complications in patients with PMM2-CDG.
Linssen M, Mohamed M, Wevers RA, Lefeber DJ, Morava E. Linssen M, et al. Among authors: morava e. 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
458 results