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Results by year

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

Year Number of Results
2001 2
2002 8
2003 3
2004 12
2005 6
2006 7
2007 8
2008 3
2009 3
2010 7
2011 3
2012 6
2013 8
2014 7
2015 2
2016 2
2017 5
2018 2
2019 8
2020 6
2021 9
2022 4
2023 2
2024 2

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113 results

Results by year

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Page 1
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
Maia N, Potelle S, Yildirim H, Duvet S, Akula SK, Schulz C, Wiame E, Gheldof A, O'Kane K, Lai A, Sermon K, Proisy M, Loget P, Attié-Bitach T, Quelin C, Fortuna AM, Soares AR, de Brouwer APM, Van Schaftingen E, Nassogne MC, Walsh CA, Stouffs K, Jorge P, Jansen AC, Foulquier F. Maia N, et al. Among authors: van schaftingen e. Am J Hum Genet. 2022 Feb 3;109(2):345-360. doi: 10.1016/j.ajhg.2021.12.010. Epub 2022 Jan 18. Am J Hum Genet. 2022. PMID: 35045343 Free PMC article.
Molecular Damage in Aging.
Gladyshev VN, Kritchevsky SB, Clarke SG, Cuervo AM, Fiehn O, de Magalhães JP, Mau T, Maes M, Moritz R, Niedernhofer LJ, Van Schaftingen E, Tranah GJ, Walsh K, Yura Y, Zhang B, Cummings SR. Gladyshev VN, et al. Among authors: van schaftingen e. Nat Aging. 2021 Dec;1(12):1096-1106. doi: 10.1038/s43587-021-00150-3. Epub 2021 Dec 20. Nat Aging. 2021. PMID: 36846190 Free PMC article. Review.
SLC37A4-CDG: Second patient.
Wilson MP, Quelhas D, Leão-Teles E, Sturiale L, Rymen D, Keldermans L, Race V, Souche E, Rodrigues E, Campos T, Van Schaftingen E, Foulquier F, Garozzo D, Matthijs G, Jaeken J. Wilson MP, et al. Among authors: van schaftingen e. JIMD Rep. 2021 Jan 6;58(1):122-128. doi: 10.1002/jmd2.12195. eCollection 2021 Mar. JIMD Rep. 2021. PMID: 33728255 Free PMC article.
Inborn errors of metabolite repair.
Veiga-da-Cunha M, Van Schaftingen E, Bommer GT. Veiga-da-Cunha M, et al. Among authors: van schaftingen e. J Inherit Metab Dis. 2020 Jan;43(1):14-24. doi: 10.1002/jimd.12187. Epub 2019 Dec 29. J Inherit Metab Dis. 2020. PMID: 31691304 Free PMC article. Review.
The glucose-6-phosphatase system.
van Schaftingen E, Gerin I. van Schaftingen E, et al. Biochem J. 2002 Mar 15;362(Pt 3):513-32. doi: 10.1042/0264-6021:3620513. Biochem J. 2002. PMID: 11879177 Free PMC article. Review.
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: van schaftingen e. 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.
Metabolite Repair Enzymes Control Metabolic Damage in Glycolysis.
Bommer GT, Van Schaftingen E, Veiga-da-Cunha M. Bommer GT, et al. Among authors: van schaftingen e. Trends Biochem Sci. 2020 Mar;45(3):228-243. doi: 10.1016/j.tibs.2019.07.004. Epub 2019 Aug 28. Trends Biochem Sci. 2020. PMID: 31473074 Free article. Review.
113 results