Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency

Mutations of the mitochondrial citrate carrier (CIC) SLC25A1 cause combined d-2- and l-2-hydroxyglutaric aciduria (dl-2HGA; OMIM #615182), a neurometabolic disorder characterized by developmental delay, hypotonia, and seizures. Here, we describe the female child of consanguineous parents who present...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Smith, Amanda, McBride, Skye, Marcadier, Julien L., Michaud, Jean, Al-Dirbashi, Osama Y., Schwartzentruber, Jeremy, Beaulieu, Chandree L., Katz, Sherri L., Majewski, Jacek, Bulman, Dennis E., Geraghty, Michael T., Harper, Mary-Ellen, Chakraborty, Pranesh, Lines, Matthew A.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5110450/
https://ncbi.nlm.nih.gov/pubmed/27306203
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_536
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