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Displaying 6 results.
    • Journal article
    Detection of variants in SLC6A8 and functional analysis of unclassified missense variants.
    Betsalel, Ofir T Pop, Ana Rosenberg, Efraim H Fernandez-Ojeda, Matilde Jakobs, Cornelis Salomons, Gajja S (2012) Molecular genetics and metabolism — Vol. 105, no.4, p. 596-601 (2012)
    • Journal article
    Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
    Nota, Benjamin Struys, Eduard A Pop, Ana Jansen, Erwin E Fernandez Ojeda, Matilde R Kanhai, Warsha A Kranendijk, Martijn van Dooren, Silvy J M Bevova, Marianna R Sistermans, Erik A Nieuwint, Aggie W M Barth, Magalie Ben-Omran, Tawfeg Hoffmann, Georg F de Lonlay, Pascale McDonald, Marie T Meberg, Alf Muntau, Ania C Nuoffer, Jean-Marc Parini, Rossella Read, Marie-Hélène Renneberg, Axel Santer, René Strahleck, Thomas Van Schaftingen, Emile[UCL] van der Knaap, Marjo S Jakobs, Cornelis Salomons, Gajja S (2013) American Journal of Human Genetics — Vol. 92, no.4, p. 627-31 (2013)
    • Journal article
    Hyperpipecolic acidaemia: A diagnostic tool for peroxisomal disorders
    Peduto, Antonella Baumgartner, Matthias R. Verhoeven, Nanda M. Rabier, Daniel Spada, Marco Nassogne, Marie-Cécile[UCL] Poll-The, Bwee-Tien T. Bonetti, Giovanni Jakobs, Cornelis Saudubray, Jean-Marie (2004) Molecular Genetics and Metabolism — Vol. 82, no. 3, p. 224-230 (2004)
    • Journal article
    Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.
    Struys, Eduard A Korman, Stanley H Salomons, Gajja S Darmin, Patricia S Achouri, Younes[UCL] Van Schaftingen, Emile[UCL] Verhoeven, Nanda M Jakobs, Cornelis (2005) Annals of Neurology — Vol. 58, no. 4, p. 626-630 (2005)
    • Journal article
    Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.
    Struys, Eduard A. Salomons, Gajja S. Achouri, Younes[UCL] Van Schaftingen, Emile[UCL] Grosso, Salvatore Craigen, William J. Verhoeven, Nanda M. Jakobs, Cornelis (2005) American Journal of Human Genetics — Vol. 76, no. 2, p. 358-360 (2005)
    • Journal article
    IDH2 mutations in patients with D-2-hydroxyglutaric aciduria
    Kranendijk, Martijn Struys, Eduard A Van Schaftingen, Emile[UCL] Gibson, K Michael Kanhai, Warsha A van der Knaap, Marjo S Amiel, Jeanne Buist, Neil R Das, Anibh M de Klerk, Johannis B Feigenbaum, Annette S Grange, Dorothy K Hofstede, Floris C Holme, Elisabeth Kirk, Edwin P Korman, Stanley H Morava, Eva Morris, Andrew Smeitink, Jan Sukhai, Rám N Vallance, Hilary Jakobs, Cornelis Salomons, Gajja S (2010) Science — Vol. 330, no. 6002, p. 336 (2010)