Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria

✍ Scribed by 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; van der Knaap, Marjo S.; Jakobs, Cornelis; Salomons, Gajja S.

• Book ID: 121185094
• Publisher: American Society of Human Genetics
• Year: 2013
• Tongue: English
• Weight: 293 KB
• Volume: 92
• Category: Article
• ISSN: 0002-9297
• DOI: 10.1016/j.ajhg.2013.03.009