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Spectrum of combined respiratory chain defects

Inherited disorders of mitochondrial energy metabolism form a large and heterogeneous group of metabolic diseases. More than 250 gene defects have been reported to date and this number continues to grow. Mitochondrial diseases can be grouped into (1) disorders of oxidative phosphorylation (OXPHOS) s...

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Publicado en:J Inherit Metab Dis
Autores principales: Mayr, Johannes A., Haack, Tobias B., Freisinger, Peter, Karall, Daniela, Makowski, Christine, Koch, Johannes, Feichtinger, René G., Zimmermann, Franz A., Rolinski, Boris, Ahting, Uwe, Meitinger, Thomas, Prokisch, Holger, Sperl, Wolfgang
Formato: Artigo
Lenguaje:Inglês
Publicado: Springer Netherlands 2015
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4493854/
https://ncbi.nlm.nih.gov/pubmed/25778941
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-015-9831-y
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