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Page 1
A case with rare type of congenital disorder of glycosylation: PGM1-CDG.
Küçükçongar A, Tümer L, Ezgü FS, Kasapkara ÇS, Jaeken J, Matthijs G, Rymen D, Dalgiç B, Bıdecı A, Hasanoğlu A. Küçükçongar A, et al. Among authors: rymen d. Genet Couns. 2015;26(1):87-90. Genet Couns. 2015. PMID: 26043514 No abstract available.
Skin manifestations in CDG.
Rymen D, Jaeken J. Rymen D, et al. J Inherit Metab Dis. 2014 Sep;37(5):699-708. doi: 10.1007/s10545-014-9678-7. Epub 2014 Feb 20. J Inherit Metab Dis. 2014. PMID: 24554337 Review.
Congenital disorders of glycosylation: other causes of ichthyosis.
Jaeken J, Rymen D, Matthijs G. Jaeken J, et al. Among authors: rymen d. Eur J Hum Genet. 2014 Apr;22(4):444. doi: 10.1038/ejhg.2013.168. Epub 2013 Jul 31. Eur J Hum Genet. 2014. PMID: 23900269 Free PMC article. No abstract available.
Key features and clinical variability of COG6-CDG.
Rymen D, Winter J, Van Hasselt PM, Jaeken J, Kasapkara C, Gokçay G, Haijes H, Goyens P, Tokatli A, Thiel C, Bartsch O, Hecht J, Krawitz P, Prinsen HC, Mildenberger E, Matthijs G, Kornak U. Rymen D, et al. Mol Genet Metab. 2015 Nov;116(3):163-70. doi: 10.1016/j.ymgme.2015.07.003. Epub 2015 Jul 29. Mol Genet Metab. 2015. PMID: 26260076
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. 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.
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E. Altassan R, et al. Among authors: rymen d. J Inherit Metab Dis. 2021 Jan;44(1):148-163. doi: 10.1002/jimd.12286. Epub 2020 Sep 15. J Inherit Metab Dis. 2021. PMID: 32681750 Free PMC article. Review.
MAN1B1 deficiency: an unexpected CDG-II.
Rymen D, Peanne R, Millón MB, Race V, Sturiale L, Garozzo D, Mills P, Clayton P, Asteggiano CG, Quelhas D, Cansu A, Martins E, Nassogne MC, Gonçalves-Rocha M, Topaloglu H, Jaeken J, Foulquier F, Matthijs G. Rymen D, et al. PLoS Genet. 2013;9(12):e1003989. doi: 10.1371/journal.pgen.1003989. Epub 2013 Dec 12. PLoS Genet. 2013. PMID: 24348268 Free PMC article.
Multiple phenotypes in phosphoglucomutase 1 deficiency.
Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, Reunert J, Witten A, Schrapers E, Matthijs G, Jaeken J, Rymen D, Stojkovic T, Laforêt P, Petit F, Aumaître O, Czarnowska E, Piraud M, Podskarbi T, Stanley CA, Matalon R, Burda P, Seyyedi S, Debus V, Socha P, Sykut-Cegielska J, van Spronsen F, de Meirleir L, Vajro P, DeClue T, Ficicioglu C, Wada Y, Wevers RA, Vanderschaeghe D, Callewaert N, Fingerhut R, van Schaftingen E, Freeze HH, Morava E, Lefeber DJ, Marquardt T. Tegtmeyer LC, et al. Among authors: rymen d. N Engl J Med. 2014 Feb 6;370(6):533-42. doi: 10.1056/NEJMoa1206605. N Engl J Med. 2014. PMID: 24499211 Free PMC article.
MALDI-MS profiling of serum O-glycosylation and N-glycosylation in COG5-CDG.
Palmigiano A, Bua RO, Barone R, Rymen D, Régal L, Deconinck N, Dionisi-Vici C, Fung CW, Garozzo D, Jaeken J, Sturiale L. Palmigiano A, et al. Among authors: rymen d. J Mass Spectrom. 2017 Jun;52(6):372-377. doi: 10.1002/jms.3936. J Mass Spectrom. 2017. PMID: 28444691
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