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Page 1
Did you mean van chaftingen e (15,106 results)?
Glycolysis revisited.
Van Schaftingen E. Van Schaftingen E. Diabetologia. 1993 Jul;36(7):581-8. doi: 10.1007/BF00404065. Diabetologia. 1993. PMID: 8395434 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.
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.
A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia.
Jacobs J, Lyubenova H, Potelle S, Kopp J, Gerin I, Chan WL, Rodriguez de Los Santos M, Hülsemann W, Mensah MA, Cormier-Daire V, Joosten M, Bruggenwirth HT, Stuurman KE, Miranda V, Campeau PM, Wittler L, Graff J, Mundlos S, Ibrahim DM, Van Schaftingen E, Fischer-Zirnsak B, Kornak U, Ehmke N, Bommer GT. Jacobs J, et al. Among authors: van schaftingen e. Nature. 2025 Oct;646(8083):218-226. doi: 10.1038/s41586-025-09397-x. Epub 2025 Aug 20. Nature. 2025. PMID: 40836090 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.
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.
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.
Fructose 2,6-bisphosphate.
Van Schaftingen E. Van Schaftingen E. Adv Enzymol Relat Areas Mol Biol. 1987;59:315-95. doi: 10.1002/9780470123058.ch7. Adv Enzymol Relat Areas Mol Biol. 1987. PMID: 3028056 Review. No abstract available.
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.
Wilson MP, Kentache T, Althoff CR, Schulz C, de Bettignies G, Mateu Cabrera G, Cimbalistiene L, Burnyte B, Yoon G, Costain G, Vuillaumier-Barrot S, Cheillan D, Rymen D, Rychtarova L, Hansikova H, Bury M, Dewulf JP, Caligiore F, Jaeken J, Cantagrel V, Van Schaftingen E, Matthijs G, Foulquier F, Bommer GT. Wilson MP, et al. Among authors: van schaftingen e. Cell. 2024 Jul 11;187(14):3585-3601.e22. doi: 10.1016/j.cell.2024.04.041. Epub 2024 May 30. Cell. 2024. PMID: 38821050 Free PMC article.
269 results