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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 5
2003 2
2004 1
2005 4
2006 5
2007 2
2008 2
2009 2
2010 5
2011 2
2012 5
2013 3
2014 4
2015 5
2016 8
2017 4
2018 8
2019 8
2020 5
2021 4
2024 0

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68 results

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Page 1
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. Altassan R, et al. Among authors: seta n. J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. J Inherit Metab Dis. 2019. PMID: 30740725
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: seta n. 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.
Serum bikunin is a biomarker of linkeropathies.
Bruneel A, Dubail J, Roseau C, Prada P, Haouari W, Huber C, Dupré T, Poüs C, Cormier-Daire V, Seta N. Bruneel A, et al. Among authors: seta n. Clin Chim Acta. 2018 Oct;485:178-180. doi: 10.1016/j.cca.2018.06.044. Epub 2018 Jun 30. Clin Chim Acta. 2018. PMID: 29969625 No abstract available.
[Inherited disorders of protein glycosylation].
Dupré T, Lavieu G, Moore S, Seta N; Réseau de recherche sur les CDG I Inserm/AFM (4MR39F). Dupré T, et al. Among authors: seta n. Med Sci (Paris). 2004 Mar;20(3):331-8. doi: 10.1051/medsci/2004203331. Med Sci (Paris). 2004. PMID: 15067579 Free article. Review. French.
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications.
Castiglioni C, Feillet F, Barnerias C, Wiedemann A, Muchart J, Cortes F, Hernando-Davalillo C, Montero R, Dupré T, Bruneel A, Seta N, Vuillaumier-Barrot S, Serrano M. Castiglioni C, et al. Among authors: seta n. Hum Mutat. 2021 Feb;42(2):142-149. doi: 10.1002/humu.24151. Epub 2020 Dec 21. Hum Mutat. 2021. PMID: 33300232
Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.
Himmelreich N, Dimitrov B, Geiger V, Zielonka M, Hutter AM, Beedgen L, Hüllen A, Breuer M, Peters V, Thiemann KC, Hoffmann GF, Sinning I, Dupré T, Vuillaumier-Barrot S, Barrey C, Denecke J, Kölfen W, Düker G, Ganschow R, Lentze MJ, Moore S, Seta N, Ziegler A, Thiel C. Himmelreich N, et al. Among authors: seta n. Hum Mutat. 2019 Jul;40(7):938-951. doi: 10.1002/humu.23764. Epub 2019 May 8. Hum Mutat. 2019. PMID: 31067009 Review.
Long term outcome of MPI-CDG patients on D-mannose therapy.
Girard M, Douillard C, Debray D, Lacaille F, Schiff M, Vuillaumier-Barrot S, Dupré T, Fabre M, Damaj L, Kuster A, Torre S, Mention K, McLin V, Dobbelaere D, Borgel D, Bauchard E, Seta N, Bruneel A, De Lonlay P. Girard M, et al. Among authors: seta n. J Inherit Metab Dis. 2020 Nov;43(6):1360-1369. doi: 10.1002/jimd.12289. Epub 2020 Aug 9. J Inherit Metab Dis. 2020. PMID: 33098580
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.
Schiff M, Roda C, Monin ML, Arion A, Barth M, Bednarek N, Bidet M, Bloch C, Boddaert N, Borgel D, Brassier A, Brice A, Bruneel A, Buissonnière R, Chabrol B, Chevalier MC, Cormier-Daire V, De Barace C, De Maistre E, De Saint-Martin A, Dorison N, Drouin-Garraud V, Dupré T, Echenne B, Edery P, Feillet F, Fontan I, Francannet C, Labarthe F, Gitiaux C, Héron D, Hully M, Lamoureux S, Martin-Coignard D, Mignot C, Morin G, Pascreau T, Pincemaille O, Polak M, Roubertie A, Thauvin-Robinet C, Toutain A, Viot G, Vuillaumier-Barrot S, Seta N, De Lonlay P. Schiff M, et al. Among authors: seta n. J Med Genet. 2017 Dec;54(12):843-851. doi: 10.1136/jmedgenet-2017-104903. Epub 2017 Sep 27. J Med Genet. 2017. PMID: 28954837 Review.
Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.
Haouari W, Dubail J, Lounis-Ouaras S, Prada P, Bennani R, Roseau C, Huber C, Afenjar A, Colin E, Vuillaumier-Barrot S, Seta N, Foulquier F, Poüs C, Cormier-Daire V, Bruneel A. Haouari W, et al. Among authors: seta n. J Inherit Metab Dis. 2020 Nov;43(6):1349-1359. doi: 10.1002/jimd.12291. Epub 2020 Aug 7. J Inherit Metab Dis. 2020. PMID: 32700771
Expanding the Spectrum of PMM2-CDG Phenotype.
Vuillaumier-Barrot S, Isidor B, Dupré T, Le Bizec C, David A, Seta N. Vuillaumier-Barrot S, et al. Among authors: seta n. JIMD Rep. 2012;5:123-5. doi: 10.1007/8904_2011_114. Epub 2011 Dec 25. JIMD Rep. 2012. PMID: 23430927 Free PMC article.
68 results