Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects

• Váldodahkkit: Nuria Bujan (Dahkki), Constanza Morén (Dahkki), Francesc J. García-García (Dahkki), Alberto Blázquez (Dahkki), Clara Carnicer (Dahkki), Ana Belén Cortés (Dahkki), Cristina González (Dahkki), Ester López-Gallardo (Dahkki), Ester Lozano (Dahkki), Sonia Moliner (Dahkki), Laura Gort (Dahkki), Ester Tobías (Dahkki), Aitor Delmiro (Dahkki), Miguel Ángel Martin (Dahkki), Miguel Ángel Fernández-Moreno (Dahkki), Eduardo Ruiz-Pesini (Dahkki), Elena Garcia-Arumí (Dahkki), Juan Carlos Rodríguez-Aguilera (Dahkki), Glòria Garrabou (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: MDPI AG, 2022-04-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

The quantification of mitochondrial respiratory chain (MRC) enzymatic activities is essential for diagnosis of a wide range of mitochondrial diseases, ranging from inherited defects to secondary dysfunctions. MRC lesion is frequently linked to extended cell damage through the generation of proton le...