Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency

by Sinziana Stanescu, Amaya Belanger-Quintana, Carlos Alcalde Martin, Celia Pérez-Cerdá Silvestre, Begoña Merinero Cortés, Belen Gonzalez Pérez, Carmen Fernández García-Abril, Francisco Arrieta Blanco, Esperanza Palacios Valverde, Mercedes Martínez-Pardo Casanova
Published 2020-01-01

Isolated and Combined Remethylation Disorders

by Eva Richard PhD, Sandra Brasil PhD, Fátima Leal, Rosa Navarrete, Ana Vega PhD, María Jesús Ecay, Lourdes R. Desviat PhD, Celia Pérez-Cerda PhD, Magdalena Ugarte PhD, Begoña Merinero PhD, Belén Pérez PhD
Published 2017-01-01

Genes and Variants Underlying Human Congenital Lactic Acidosis—From Genetics to Personalized Treatment

by Irene Bravo-Alonso, Rosa Navarrete, Ana Isabel Vega, Pedro Ruíz-Sala, María Teresa García Silva, Elena Martín-Hernández, Pilar Quijada-Fraile, Amaya Belanger-Quintana, Sinziana Stanescu, María Bueno, Isidro Vitoria, Laura Toledo, María Luz Couce, Inmaculada García-Jiménez, Ricardo Ramos-Ruiz, Miguel Ángel Martín, Lourdes R. Desviat, Magdalena Ugarte, Celia Pérez-Cerdá, Begoña Merinero, Belén Pérez, Pilar Rodríguez-Pombo
Published 2019-11-01

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

by Sandra Brasil, Fátima Leal, Ana Vega, Rosa Navarrete, María Jesús Ecay, Lourdes R. Desviat, Casandra Riera, Natàlia Padilla, Xavier de la Cruz, Mari Luz Couce, Elena Martin-Hernández, Ana Morais, Consuelo Pedrón, Luis Peña-Quintana, Miriam Rigoldi, Norma Specola, Isabel Tavares de Almeida, Inmaculada Vives, Raquel Yahyaoui, Pilar Rodríguez-Pombo, Magdalena Ugarte, Celia Pérez-Cerda, Begoña Merinero, Belén Pérez
Published 2018-07-01