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

by Mouna Habbane, Laura Llobet, M. Pilar Bayona-Bafaluy, José E. Bárcena, Leticia Ceberio, Covadonga Gómez-Díaz, Laura Gort, Rafael Artuch, Julio Montoya, Eduardo Ruiz-Pesini
Published 2020-08-01

Urine Phenylacetylglutamine Determination in Patients with Hyperphenylalaninemia

by Fernando Andrade, Ainara Cano, María Unceta Suarez, Arantza Arza, Ana Vinuesa, Leticia Ceberio, Nuria López-Oslé, Gorka de Frutos, Raquel López-Oceja, Elena Aznal, Domingo González-Lamuño, Javier de las Heras
Published 2021-08-01

Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance

by Ainara Cano, Carlos Alcalde, Amaya Belanger-Quintana, Elvira Cañedo-Villarroya, Leticia Ceberio, Silvia Chumillas-Calzada, Patricia Correcher, María Luz Couce, Dolores García-Arenas, Igor Gómez, Tomás Hernández, Elsa Izquierdo-García, Dámaris Martínez Chicano, Montserrat Morales, Consuelo Pedrón-Giner, Estrella Petrina Jáuregui, Luis Peña-Quintana, Paula Sánchez-Pintos, Juliana Serrano-Nieto, María Unceta Suarez, Isidro Vitoria Miñana, Javier de las Heras
Published 2021-06-01