Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation

gan Emperador, Sonia, López-Gallardo, Ester, Hernández-Ainsa, Carmen, Habbane, Mouna, Montoya, Julio, Bayona-Bafaluy, M. Pilar, Ruiz-Pesini, Eduardo
Cyhoeddwyd yn Orphanet J Rare Dis (2019)

Leigh Syndrome in a Pedigree Harboring the m.1555A>G Mutation in the Mitochondrial 12S rRNA

gan Habbane, Mouna, Llobet, Laura, Bayona-Bafaluy, M. Pilar, Bárcena, José E., Ceberio, Leticia, Gómez-Díaz, Covadonga, Gort, Laura, Artuch, Rafael, Montoya, Julio, Ruiz-Pesini, Eduardo
Cyhoeddwyd yn Genes (Basel) (2020)