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Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
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.
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.
Science. 2010 Oct 15;330(6002):336. doi: 10.1126/science.1192632. Epub 2010 Sep 16.
Science. 2010.
PMID: 20847235
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Progress in understanding 2-hydroxyglutaric acidurias.
Kranendijk M, Struys EA, Salomons GS, Van der Knaap MS, Jakobs C.
Kranendijk M, et al.
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.
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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: kranendijk m.
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.
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A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: novel avenues for biochemical and therapeutic studies.
Kranendijk M, Salomons GS, Gibson KM, Van Schaftingen E, Jakobs C, Struys EA.
Kranendijk M, et al.
Biochim Biophys Acta. 2011 Nov;1812(11):1380-4. doi: 10.1016/j.bbadis.2011.08.006. Epub 2011 Aug 24.
Biochim Biophys Acta. 2011.
PMID: 21889589
Free article.
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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.
Hum Mutat. 2010 Mar;31(3):279-83. doi: 10.1002/humu.21186.
Hum Mutat. 2010.
PMID: 20020533
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Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduria.
Kranendijk M, Salomons GS, Gibson KM, Aktuglu-Zeybek C, Bekri S, Christensen E, Clarke J, Hahn A, Korman SH, Mejaski-Bosnjak V, Superti-Furga A, Vianey-Saban C, van der Knaap MS, Jakobs C, Struys EA.
Kranendijk M, et al.
J Inherit Metab Dis. 2009 Dec;32(6):713. doi: 10.1007/s10545-009-1282-x. Epub 2009 Oct 10.
J Inherit Metab Dis. 2009.
PMID: 19821142
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Evaluation of the sensitivity of miniaturized liquid chromatography-electrospray ionization-mass spectrometry for pharmaceutical analysis.
Kranendijk M, Waterval JC, Somsen GW, de Jong GJ.
Kranendijk M, et al.
J Sep Sci. 2005 Sep;28(14):1796-802. doi: 10.1002/jssc.200500203.
J Sep Sci. 2005.
PMID: 16224975
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