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Page 1
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.
Steenweg ME, Jakobs C, Errami A, van Dooren SJ, Adeva Bartolomé MT, Aerssens P, Augoustides-Savvapoulou P, Baric I, Baumann M, Bonafé L, Chabrol B, Clarke JT, Clayton P, Coker M, Cooper S, Falik-Zaccai T, Gorman M, Hahn A, Hasanoglu A, King MD, de Klerk HB, Korman SH, Lee C, Meldgaard Lund A, Mejaski-Bosnjak V, Pascual-Castroviejo I, Raadhyaksha A, Rootwelt T, Roubertie A, Ruiz-Falco ML, Scalais E, Schimmel U, Seijo-Martinez M, Suri M, Sykut-Cegielska J, Trefz FK, Uziel G, Valayannopoulos V, Vianey-Saban C, Vlaho S, Vodopiutz J, Wajner M, Walter J, Walter-Derbort C, Yapici Z, Zafeiriou DI, Spreeuwenberg MD, Celli J, den Dunnen JT, van der Knaap MS, Salomons GS. Steenweg ME, et al. Among authors: van dooren sj, van der knaap ms. Hum Mutat. 2010 Apr;31(4):380-90. doi: 10.1002/humu.21197. Hum Mutat. 2010. PMID: 20052767 Review.
Energy, control and DNA structure in the living cell.
Wijker JE, Jensen PR, Snoep JL, Vaz Gomes A, Guiral M, Jongsma AP, de Waal A, Hoving S, van Dooren S, van der Weijden CC, et al. Wijker JE, et al. Biophys Chem. 1995 Jun-Jul;55(1-2):153-65. doi: 10.1016/0301-4622(94)00148-d. Biophys Chem. 1995. PMID: 7632875 Review.
X-linked creatine transporter defect: an overview.
Salomons GS, van Dooren SJ, Verhoeven NM, Marsden D, Schwartz C, Cecil KM, DeGrauw TJ, Jakobs C. Salomons GS, et al. Among authors: van dooren sj. J Inherit Metab Dis. 2003;26(2-3):309-18. doi: 10.1023/a:1024405821638. J Inherit Metab Dis. 2003. PMID: 12889669 Review.
Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord.
van der Knaap MS, Ramesh V, Schiffmann R, Blaser S, Kyllerman M, Gholkar A, Ellison DW, van der Voorn JP, van Dooren SJ, Jakobs C, Barkhof F, Salomons GS. van der Knaap MS, et al. Among authors: van dooren sj, van der voorn jp. Neurology. 2006 Feb 28;66(4):494-8. doi: 10.1212/01.wnl.0000198770.80743.37. Neurology. 2006. PMID: 16505300
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.
Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing.
Nota B, Hamilton EM, Sie D, Ozturk S, van Dooren SJ, Ojeda MR, Jakobs C, Christensen E, Kirk EP, Sykut-Cegielska J, Lund AM, van der Knaap MS, Salomons GS. Nota B, et al. Among authors: van dooren sj, van der knaap ms. J Med Genet. 2013 Nov;50(11):754-9. doi: 10.1136/jmedgenet-2013-101961. Epub 2013 Sep 18. J Med Genet. 2013. PMID: 24049096
26 results