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Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria.
Veiga-da-Cunha M, Verhoeven-Duif NM, de Koning TJ, Duran M, Dorland B, Van Schaftingen E. Veiga-da-Cunha M, et al. Among authors: van schaftingen e. J Inherit Metab Dis. 2013 Nov;36(6):961-6. doi: 10.1007/s10545-012-9568-9. Epub 2012 Dec 14. J Inherit Metab Dis. 2013. PMID: 23242558
Mutations responsible for 3-phosphoserine phosphatase deficiency.
Veiga-da-Cunha M, Collet JF, Prieur B, Jaeken J, Peeraer Y, Rabbijns A, Van Schaftingen E. Veiga-da-Cunha M, et al. Among authors: van schaftingen e. Eur J Hum Genet. 2004 Feb;12(2):163-6. doi: 10.1038/sj.ejhg.5201083. Eur J Hum Genet. 2004. PMID: 14673469
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.
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.
267 results