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Browsing by Author DiMauro, Salvatore

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Issue DateTitleAuthor(s)Type
Feb-2006A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 DeficiencyQuinzii, Catarina; Naini, Ali; Salviati, Leonardo; Trevisson, Eva; Navas, Plácido; DiMauro, Salvatore; Hirano, MichioArtículo
20-Mar-2007Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesisLópez-Martín, José M.; Salviati, Leonardo; Trevisson, Eva; Montini, Giovanni; DiMauro, Salvatore; Quinzii, Catarina; Hirano, Michio; Rodríguez-Hernández, Ángeles; Cordero, Mario D.; Sánchez-Alcázar, José Antonio; Santos-Ocaña, Carlos; Navas, PlácidoArtículo
29-Jan-2008Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiencyQuinzii, Catarina; López, Luis C.; Von-Moltke, Jakob; Naini, Ali; Krishna, Sindu; Schuelke, Markus; Salviati, Leonardo; Navas, Plácido; DiMauro, Salvatore; Hirano, MichioArtículo

Showing results 1 to 3 of 3