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Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.
Struys EA, Korman SH, Salomons GS, Darmin PS, Achouri Y, van Schaftingen E, Verhoeven NM, Jakobs C. Struys EA, et al. Among authors: van schaftingen e. Ann Neurol. 2005 Oct;58(4):626-30. doi: 10.1002/ana.20559. Ann Neurol. 2005. PMID: 16037974
IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.
Kranendijk M, Struys EA, van Schaftingen E, Gibson KM, Kanhai WA, van der Knaap MS, Amiel J, Buist NR, Das AM, de Klerk JB, Feigenbaum AS, Grange DK, Hofstede FC, Holme E, Kirk EP, Korman SH, Morava E, Morris A, Smeitink J, Sukhai RN, Vallance H, Jakobs C, Salomons GS. Kranendijk M, et al. Among authors: van schaftingen e, van der knaap ms. Science. 2010 Oct 15;330(6002):336. doi: 10.1126/science.1192632. Epub 2010 Sep 16. Science. 2010. PMID: 20847235
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
Nota B, Struys EA, Pop A, Jansen EE, Fernandez Ojeda MR, Kanhai WA, Kranendijk M, van Dooren SJ, Bevova MR, Sistermans EA, Nieuwint AW, Barth M, Ben-Omran T, Hoffmann GF, de Lonlay P, McDonald MT, Meberg A, Muntau AC, Nuoffer JM, Parini R, Read MH, Renneberg A, Santer R, Strahleck T, van Schaftingen E, van der Knaap MS, Jakobs C, Salomons GS. Nota B, et al. Among authors: van dooren sj, van schaftingen e, van der knaap ms. Am J Hum Genet. 2013 Apr 4;92(4):627-31. doi: 10.1016/j.ajhg.2013.03.009. Am J Hum Genet. 2013. PMID: 23561848 Free PMC article.
D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.
Pop A, Struys EA, Jansen EEW, Fernandez MR, Kanhai WA, van Dooren SJM, Ozturk S, van Oostendorp J, Lennertz P, Kranendijk M, van der Knaap MS, Gibson KM, van Schaftingen E, Salomons GS. Pop A, et al. Among authors: van dooren sjm, van schaftingen e, van der knaap ms, van oostendorp j. Hum Mutat. 2019 Jul;40(7):975-982. doi: 10.1002/humu.23751. Epub 2019 Apr 13. Hum Mutat. 2019. PMID: 30908763 Free PMC article.
Identification of a dehydrogenase acting on D-2-hydroxyglutarate.
Achouri Y, Noël G, Vertommen D, Rider MH, Veiga-Da-Cunha M, Van Schaftingen E. Achouri Y, et al. Among authors: van schaftingen e. Biochem J. 2004 Jul 1;381(Pt 1):35-42. doi: 10.1042/BJ20031933. Biochem J. 2004. PMID: 15070399 Free PMC article.
A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair.
Rzem R, Achouri Y, Marbaix E, Schakman O, Wiame E, Marie S, Gailly P, Vincent MF, Veiga-da-Cunha M, Van Schaftingen E. Rzem R, et al. Among authors: van schaftingen e. PLoS One. 2015 Mar 12;10(3):e0119540. doi: 10.1371/journal.pone.0119540. eCollection 2015. PLoS One. 2015. PMID: 25763823 Free PMC article.
262 results