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Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor.
Wortmann SB, Van Hove JLK, Derks TGJ, Chevalier N, Knight V, Koller A, Oussoren E, Mayr JA, van Spronsen FJ, Lagler FB, Gaughan S, Van Schaftingen E, Veiga-da-Cunha M. Wortmann SB, et al. Among authors: van hove jlk, van schaftingen e, van spronsen fj. Blood. 2020 Aug 27;136(9):1033-1043. doi: 10.1182/blood.2019004465. Blood. 2020. PMID: 32294159 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.
How many forms of glycogen storage disease type I?
Veiga-da-Cunha M, Gerin I, Van Schaftingen E. Veiga-da-Cunha M, et al. Among authors: van schaftingen e. Eur J Pediatr. 2000 May;159(5):314-8. doi: 10.1007/s004310051279. Eur J Pediatr. 2000. PMID: 10834514 Review.
Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency.
Veiga-da-Cunha M, Chevalier N, Stephenne X, Defour JP, Paczia N, Ferster A, Achouri Y, Dewulf JP, Linster CL, Bommer GT, Van Schaftingen E. Veiga-da-Cunha M, et al. Among authors: van schaftingen e. Proc Natl Acad Sci U S A. 2019 Jan 22;116(4):1241-1250. doi: 10.1073/pnas.1816143116. Epub 2019 Jan 9. Proc Natl Acad Sci U S A. 2019. PMID: 30626647 Free PMC article.
Enzyme complexity in intermediary metabolism.
Van Schaftingen E, Veiga-da-Cunha M, Linster CL. Van Schaftingen E, et al. 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.
262 results