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Page 1
CDG or not CDG.
Freeze HH, Jaeken J, Matthijs G. Freeze HH, et al. Among authors: jaeken j. J Inherit Metab Dis. 2022 May;45(3):383-385. doi: 10.1002/jimd.12498. Epub 2022 Apr 1. J Inherit Metab Dis. 2022. PMID: 35338706 Free PMC article. No abstract available.
CDG nomenclature: time for a change!
Jaeken J, Hennet T, Matthijs G, Freeze HH. Jaeken J, et al. Biochim Biophys Acta. 2009 Sep;1792(9):825-6. doi: 10.1016/j.bbadis.2009.08.005. Biochim Biophys Acta. 2009. PMID: 19765534 Free PMC article. No abstract available.
COG5-CDG: expanding the clinical spectrum.
Rymen D, Keldermans L, Race V, Régal L, Deconinck N, Dionisi-Vici C, Fung CW, Sturiale L, Rosnoblet C, Foulquier F, Matthijs G, Jaeken J. Rymen D, et al. Among authors: jaeken j. Orphanet J Rare Dis. 2012 Dec 10;7:94. doi: 10.1186/1750-1172-7-94. Orphanet J Rare Dis. 2012. PMID: 23228021 Free PMC article.
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC; University of Washington Center for Mendelian Genomics; Matthijs G, Freeze HH. Ng BG, et al. Among authors: jaeken j. Hum Mutat. 2016 Jul;37(7):653-60. doi: 10.1002/humu.22983. Epub 2016 Mar 21. Hum Mutat. 2016. PMID: 26931382 Free PMC article.
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. Among authors: jaeken j. 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. Among authors: jaeken j. 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.
PMM2-CDG and sensorineural hearing loss.
Kasapkara ÇS, Barış Z, Kılıç M, Yüksel D, Keldermans L, Matthijs G, Jaeken J. Kasapkara ÇS, et al. Among authors: jaeken j. J Inherit Metab Dis. 2017 Sep;40(5):629-630. doi: 10.1007/s10545-017-0073-z. Epub 2017 Jul 31. J Inherit Metab Dis. 2017. PMID: 28762107 No abstract available.
Congenital disorders of glycosylation (CDG): Quo vadis?
Péanne R, de Lonlay P, Foulquier F, Kornak U, Lefeber DJ, Morava E, Pérez B, Seta N, Thiel C, Van Schaftingen E, Matthijs G, Jaeken J. Péanne R, et al. Among authors: jaeken j. Eur J Med Genet. 2018 Nov;61(11):643-663. doi: 10.1016/j.ejmg.2017.10.012. Epub 2017 Oct 25. Eur J Med Genet. 2018. PMID: 29079546 Free article. Review.
438 results