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

Year Number of Results
1988 2
1989 5
1990 1
1991 3
1992 2
1993 2
1994 7
1996 3
1997 2
1998 3
1999 5
2000 9
2001 7
2002 10
2003 7
2004 4
2005 6
2006 7
2007 9
2008 10
2009 9
2010 9
2011 3
2012 8
2013 6
2014 8
2015 8
2016 10
2017 5
2018 10
2019 9
2020 5
2021 4
2023 1
2024 0

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176 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.
[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.
[Genes of alpha-dystroglycanopathies in 2016].
Bouchet-Séraphin C, Chelbi-Viallon M, Vuillaumier-Barrot S, Seta N. Bouchet-Séraphin C, et al. Among authors: seta n. Med Sci (Paris). 2016 Nov;32 Hors série n°2:40-45. doi: 10.1051/medsci/201632s210. Epub 2016 Nov 21. Med Sci (Paris). 2016. PMID: 27869076 Free article. French. No abstract available.
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.
Insecticide urinary metabolites in nonoccupationally exposed populations.
Bouvier G, Seta N, Vigouroux-Villard A, Blanchard O, Momas I. Bouvier G, et al. Among authors: seta n. J Toxicol Environ Health B Crit Rev. 2005 Nov-Dec;8(6):485-512. doi: 10.1080/10937400591007284. J Toxicol Environ Health B Crit Rev. 2005. PMID: 16188732 Review.
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
176 results