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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: 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.
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
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.
Wong SY, Beamer LJ, Gadomski T, Honzik T, Mohamed M, Wortmann SB, Brocke Holmefjord KS, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Ackermann A, Stanley CA, Rymen D, Zeharia A, Al-Sayed M, Marquardt T, Jaeken J, Lefeber D, Conrad DF, Kozicz T, Morava E. Wong SY, et al. Among authors: morava e. J Pediatr. 2016 Aug;175:130-136.e8. doi: 10.1016/j.jpeds.2016.04.021. Epub 2016 May 17. J Pediatr. 2016. PMID: 27206562
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.
Morava E, Tiemes V, Thiel C, Seta N, de Lonlay P, de Klerk H, Mulder M, Rubio-Gozalbo E, Visser G, van Hasselt P, Horovitz DDG, de Souza CFM, Schwartz IVD, Green A, Al-Owain M, Uziel G, Sigaudy S, Chabrol B, van Spronsen FJ, Steinert M, Komini E, Wurm D, Bevot A, Ayadi A, Huijben K, Dercksen M, Witters P, Jaeken J, Matthijs G, Lefeber DJ, Wevers RA. Morava E, et al. J Inherit Metab Dis. 2016 Sep;39(5):713-723. doi: 10.1007/s10545-016-9945-x. Epub 2016 Jun 10. J Inherit Metab Dis. 2016. PMID: 27287710
Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.
Morava E, Tiemes V, Thiel C, Seta N, de Lonlay P, de Klerk H, Mulder M, Rubio-Gozalbo E, Visser G, van Hasselt P, Horovitz DDG, de Souza CFM, Schwartz IVD, Green A, Al-Owain M, Uziel G, Sigaudy S, Chabrol B, van Spronsen FJ, Steinert M, Komini E, Wurm D, Bevot A, Ayadi A, Huijben K, Dercksen M, Witters P, Jaeken J, Matthijs G, Lefeber DJ, Wevers RA. Morava E, et al. J Inherit Metab Dis. 2016 Sep;39(5):759. doi: 10.1007/s10545-016-9967-4. J Inherit Metab Dis. 2016. PMID: 27498540 No abstract available.
Autism in patients with propionic acidemia.
Witters P, Debbold E, Crivelly K, Vande Kerckhove K, Corthouts K, Debbold B, Andersson H, Vannieuwenborg L, Geuens S, Baumgartner M, Kozicz T, Settles L, Morava E. Witters P, et al. Among authors: morava e. Mol Genet Metab. 2016 Dec;119(4):317-321. doi: 10.1016/j.ymgme.2016.10.009. Epub 2016 Oct 31. Mol Genet Metab. 2016. PMID: 27825584
458 results