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Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites

Diagnosing primary mitochondrial respiratory chain (RC) dysfunction has long relied on invasive tissue biopsies, since no blood-based biomarker has been shown to have sufficiently high sensitivity and specificity across the myriad of individual clinical presentations. We sought to determine whether...

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Autores principales: Clarke, Colleen, Xiao, Rui, Place, Emily, Zhang, Zhe, Sondheimer, Neal, Bennett, Michael, Yudkoff, Marc, Falk, Marni J.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2013
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3812452/
https://ncbi.nlm.nih.gov/pubmed/23920046
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2013.07.011
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