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Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.
Wortmann SB, Feichtinger RG, Abela L, van Gemert LA, Aubart M, Dufeu-Berat CM, Boddaert N, de Coo R, Stühn L, Hebbink J, Heinritz W, Hildebrandt J, Himmelreich N, Korenke C, Lehman A, Leyland T, Makowski C, Martinez Marin RJ, Marzin P, Mühlhausen C, Rio M, Rotig A, Roux CJ, Schiff M, Haack TB, Syrbe S, Zylicz SA, Thiel C, Veiga da Cunha M, van Schaftingen E, Wagner M, Mayr JA, Wevers RA, Boltshauser E, Willemsen MA. Wortmann SB, et al. Among authors: veiga da cunha m. Neurol Genet. 2024 Apr 5;10(2):e200146. doi: 10.1212/NXG.0000000000200146. eCollection 2024 Apr. Neurol Genet. 2024. PMID: 38617198 Free PMC article.
Enzyme complexity in intermediary metabolism.
Van Schaftingen E, Veiga-da-Cunha M, Linster CL. Van Schaftingen E, et al. Among authors: veiga da cunha m. J Inherit Metab Dis. 2015 Jul;38(4):721-7. doi: 10.1007/s10545-015-9821-0. Epub 2015 Feb 21. J Inherit Metab Dis. 2015. PMID: 25700988 Review.
Inborn errors of metabolite repair.
Veiga-da-Cunha M, Van Schaftingen E, Bommer GT. Veiga-da-Cunha M, et al. 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.
Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder.
Morava E, Schatz UA, Torring PM, Abbott MA, Baumann M, Brasch-Andersen C, Chevalier N, Dunkhase-Heinl U, Fleger M, Haack TB, Nelson S, Potelle S, Radenkovic S, Bommer GT, Van Schaftingen E, Veiga-da-Cunha M. Morava E, et al. Among authors: veiga da cunha m. Am J Hum Genet. 2021 Jun 3;108(6):1151-1160. doi: 10.1016/j.ajhg.2021.04.017. Epub 2021 May 11. Am J Hum Genet. 2021. PMID: 33979636 Free PMC article.
Enzymatic repair of Amadori products.
Van Schaftingen E, Collard F, Wiame E, Veiga-da-Cunha M. Van Schaftingen E, et al. Among authors: veiga da cunha m. Amino Acids. 2012 Apr;42(4):1143-50. doi: 10.1007/s00726-010-0780-3. Epub 2010 Oct 22. Amino Acids. 2012. PMID: 20967558 Review.
Metabolite Repair Enzymes Control Metabolic Damage in Glycolysis.
Bommer GT, Van Schaftingen E, Veiga-da-Cunha M. Bommer GT, et al. Among authors: veiga da cunha m. 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.
88 results