Browsing by Author García Villoria, Judit

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Issue DateTitleAuthor(s)
15-Oct-2022Diagnostic odyssey in an adult patient with ophthalmologic abnormalities and hearing loss: Contribution of RNA-seq to the diagnosis of a PEX1 deficiency.Muñoz-Pujol, Gerard; Alforja, Socorro; Casaroli Marano, Ricardo Pedro; Morales Romero, Blai; García Villoria, Judit; Yépez, Vicente A; Gagneur, Julien; Gusic, Mirjana; Prokisch, Holger; Tort, Frederic; Ribes Rubió, Maria Antònia
23-May-2014Fatty acid transport protein 1 (FATP1) delivered into skeletal muscle localizes in mitochondria and regulates lipid and ketone body disposalGuitart de la Rosa, Maria; Osorio Conles, Óscar; Pentinat Pelegrin, Thais; Cebrià, Judith; García Villoria, Judit; Sala Cano, David; Sebastián Muñoz, David; Zorzano Olarte, Antonio; Ribes Rubió, Maria Antònia; Jiménez Chillarón, José Carlos; García Martínez, Celia; Gómez Foix, Anna Maria