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Page 1
Progress in understanding 2-hydroxyglutaric acidurias.
Kranendijk M, Struys EA, Salomons GS, Van der Knaap MS, Jakobs C. Kranendijk M, et al. Among authors: jakobs c. J Inherit Metab Dis. 2012 Jul;35(4):571-87. doi: 10.1007/s10545-012-9462-5. Epub 2012 Mar 6. J Inherit Metab Dis. 2012. PMID: 22391998 Free PMC article. Review.
Experimental evidence of oxidative stress in patients with l-2-hydroxyglutaric aciduria and that l-carnitine attenuates in vitro DNA damage caused by d-2-hydroxyglutaric and l-2-hydroxyglutaric acids.
Rodrigues DGB, de Moura Coelho D, Sitta Â, Jacques CED, Hauschild T, Manfredini V, Bakkali A, Struys EA, Jakobs C, Wajner M, Vargas CR. Rodrigues DGB, et al. Among authors: jakobs c. Toxicol In Vitro. 2017 Aug;42:47-53. doi: 10.1016/j.tiv.2017.04.006. Epub 2017 Apr 7. Toxicol In Vitro. 2017. PMID: 28396261 Free article.
L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients.
Steenweg ME, Salomons GS, Yapici Z, Uziel G, Scalais E, Zafeiriou DI, Ruiz-Falco ML, Mejaski-Bosnjak V, Augoustides-Savvopoulou P, Wajner M, Walter J, Verhoeven-Duif NM, Struys EA, Jakobs C, van der Knaap MS. Steenweg ME, et al. Among authors: jakobs c. Radiology. 2009 Jun;251(3):856-65. doi: 10.1148/radiol.2513080647. Radiology. 2009. PMID: 19474378
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
Kranendijk M, Struys EA, Gibson KM, Wickenhagen WV, Abdenur JE, Buechner J, Christensen E, de Kremer RD, Errami A, Gissen P, Gradowska W, Hobson E, Islam L, Korman SH, Kurczynski T, Maranda B, Meli C, Rizzo C, Sansaricq C, Trefz FK, Webster R, Jakobs C, Salomons GS. Kranendijk M, et al. Among authors: jakobs c. Hum Mutat. 2010 Mar;31(3):279-83. doi: 10.1002/humu.21186. Hum Mutat. 2010. PMID: 20020533
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: jakobs c. Science. 2010 Oct 15;330(6002):336. doi: 10.1126/science.1192632. Epub 2010 Sep 16. Science. 2010. PMID: 20847235
Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.
van de Kamp JM, Pouwels PJ, Aarsen FK, ten Hoopen LW, Knol DL, de Klerk JB, de Coo IF, Huijmans JG, Jakobs C, van der Knaap MS, Salomons GS, Mancini GM. van de Kamp JM, et al. Among authors: jakobs c. J Inherit Metab Dis. 2012 Jan;35(1):141-9. doi: 10.1007/s10545-011-9345-1. Epub 2011 May 10. J Inherit Metab Dis. 2012. PMID: 21556832 Free PMC article.
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: jakobs c. 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.
578 results