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

The Krebs cycle is of fundamental importance for the generation of the energetic and molecular needs of both prokaryotic and eukaryotic cells. Both enantiomers of metabolite 2-hydroxyglutarate are directly linked to this pivotal biochemical pathway and are found elevated not only in several cancers,...

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主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2013
主題:
Report
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3617390/
https://ncbi.nlm.nih.gov/pubmed/23561848
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.03.009
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