A Mouse Model of L-2-Hydroxyglutaric Aciduria, a Disorder of Metabolite Repair

The purpose of the present work was to progress in our understanding of the pathophysiology of L-2-hydroxyglutaric aciduria, due to a defect in L-2-hydroxyglutarate dehydrogenase, by creating and studying a mouse model of this disease. L-2-hydroxyglutarate dehydrogenase-deficient mice (l2hgdh (-/-))...

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Dettagli Bibliografici
Pubblicato in:PLoS One
Autori principali: Rzem, Rim, Achouri, Younes, Marbaix, Etienne, Schakman, Olivier, Wiame, Elsa, Marie, Sandrine, Gailly, Philippe, Vincent, Marie-Françoise, Veiga-da-Cunha, Maria, Van Schaftingen, Emile
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2015
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4357467/
https://ncbi.nlm.nih.gov/pubmed/25763823
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0119540
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