New Insights into Renal Failure in a Cohort of 317 Patients with Autosomal Dominant Forms of Alport Syndrome: Report of Two Novel Heterozygous Mutations in COL4A3

por García-Aznar, José María, De la Higuera, Luis, Besada Cerecedo, Lara, Gandiaga, Nerea Paz, Vega, Ana Isabel, Fernández-Fresnedo, Gema, González-Lamuño, Domingo
Publicado 2022

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

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