Inborn Error of Metabolism

Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing
Benjamin Nota, Eline M Hamilton, Daoud Sie, Senay Ozturk, Silvy J M van Dooren, Matilde R Fernandez Ojeda, Cornelis Jakobs, Ernst Christensen, Edwin P Kirk, Jolanta Sykut-Cegielska, Allan M Lund, Marjo S van der Knaap, Gajja S Salomons

Journal of Medical Genetics Nov 2013, 50 (11) 754-759; DOI: 10.1136/jmedgenet-2013-101961

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Inborn Error of Metabolism