An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants

Combined D-2- and L-2-hydroxyglutaric aciduria (D/L-2-HGA) is a devastating neurometabolic disorder, usually lethal in the first years of life. Autosomal recessive mutations in the SLC25A1 gene, which encodes the mitochondrial citrate carrier (CIC), were previously detected in patients affected with...

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Detalles Bibliográficos
Autores principales: Pop, Ana, Williams, Monique, Struys, Eduard A., Monné, Magnus, Jansen, Erwin E. W., De Grassi, Anna, Kanhai, Warsha A., Scarcia, Pasquale, Ojeda, Matilde R. Fernandez, Porcelli, Vito, van Dooren, Silvy J. M., Lennertz, Pascal, Nota, Benjamin, Abdenur, Jose E., Coman, David, Das, Anibh Martin, El-Gharbawy, Areeg, Nuoffer, Jean-Marc, Polic, Branka, Santer, René, Weinhold, Natalie, Zuccarelli, Britton, Palmieri, Ferdinando, Palmieri, Luigi, Salomons, Gajja S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5830478/
https://www.ncbi.nlm.nih.gov/pubmed/29238895
http://dx.doi.org/10.1007/s10545-017-0106-7

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