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Results by year

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

Year Number of Results
1995 1
2000 2
2001 6
2002 3
2003 2
2004 2
2005 2
2006 3
2007 3
2008 3
2009 6
2010 3
2011 3
2012 13
2013 9
2014 6
2015 8
2016 9
2017 11
2018 12
2019 9
2020 6
2021 11
2022 5
2023 5
2024 0

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Similar articles for PMID: 26066342

125 results

Results by year

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Page 1
ALG8-CDG: novel patients and review of the literature.
Höck M, Wegleiter K, Ralser E, Kiechl-Kohlendorfer U, Scholl-Bürgi S, Fauth C, Steichen E, Pichler K, Lefeber DJ, Matthjis G, Keldermans L, Maurer K, Zschocke J, Karall D. Höck M, et al. Orphanet J Rare Dis. 2015 Jun 12;10:73. doi: 10.1186/s13023-015-0289-7. Orphanet J Rare Dis. 2015. PMID: 26066342 Free PMC article. Review.
A new case of ALG8 deficiency (CDG Ih).
Vesela K, Honzik T, Hansikova H, Haeuptle MA, Semberova J, Stranak Z, Hennet T, Zeman J. Vesela K, et al. J Inherit Metab Dis. 2009 Dec;32 Suppl 1. doi: 10.1007/s10545-009-1203-z. Epub 2009 Aug 18. J Inherit Metab Dis. 2009. PMID: 19688606 Free article. Review.
ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.
Albokhari D, Ng BG, Guberinic A, Daniel EJP, Engelhardt NM, Barone R, Fiumara A, Garavelli L, Trimarchi G, Wolfe L, Raymond KM, Morava E, He M, Freeze HH, Lam C, Edmondson AC. Albokhari D, et al. J Inherit Metab Dis. 2022 Sep;45(5):969-980. doi: 10.1002/jimd.12527. Epub 2022 Jun 30. J Inherit Metab Dis. 2022. PMID: 35716054 Free PMC article.
Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.
Morava E, Vodopiutz J, Lefeber DJ, Janecke AR, Schmidt WM, Lechner S, Item CB, Sykut-Cegielska J, Adamowicz M, Wierzba J, Zhang ZH, Mihalek I, Stockler S, Bodamer OA, Lehle L, Wevers RA. Morava E, et al. Pediatrics. 2012 Oct;130(4):e1034-9. doi: 10.1542/peds.2011-2711. Epub 2012 Sep 10. Pediatrics. 2012. PMID: 22966035
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. 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.
125 results