Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

by Huemer, Martina, Kožich, Viktor, Rinaldo, Piero, Baumgartner, Matthias R., Merinero, Begoña, Pasquini, Elisabetta, Ribes, Antonia, Blom, Henk J.
Published 2015

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

by Yubero, Dèlia, Brandi, Núria, Ormazabal, Aida, Garcia-Cazorla, Àngels, Pérez-Dueñas, Belén, Campistol, Jaime, Ribes, Antonia, Palau, Francesc, Artuch, Rafael, Armstrong, Judith
Published 2016

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency

by Couce, Maria Luz, Sánchez-Pintos, Paula, Diogo, Luisa, Leão-Teles, Elisa, Martins, Esmeralda, Santos, Helena, Bueno, Maria Amor, Delgado-Pecellín, Carmen, Castiñeiras, Daisy E, Cocho, José A, García-Villoria, Judit, Ribes, Antonia, Fraga, José M, Rocha, Hugo
Published 2013

Fatty Acid Transport Protein 1 (FATP1) Localizes in Mitochondria in Mouse Skeletal Muscle and Regulates Lipid and Ketone Body Disposal

by Guitart, Maria, Osorio-Conles, Óscar, Pentinat, Thais, Cebrià, Judith, García-Villoria, Judit, Sala, David, Sebastián, David, Zorzano, Antonio, Ribes, Antonia, Jiménez-Chillarón, Josep C., García-Martínez, Celia, Gómez-Foix, Anna M.
Published 2014