Long‐term follow‐up with filter paper samples in patients with propionic acidemia

di Stanescu, Sinziana, Belanger‐Quintana, Amaya, Fernández‐Felix, Borja Manuel, Pérez‐Cerdá, Celia, Merinero, Begoña, Ruiz‐Sala, Pedro, Arrieta, Francisco, Martínez‐Pardo, Mercedes
Pubblicato in JIMD Rep (2020)

Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type

di Jorge-Finnigan, Ana, Brasil, Sandra, Underhaug, Jarl, Ruíz-Sala, Pedro, Merinero, Begoña, Banerjee, Ruma, Desviat, Lourdes R., Ugarte, Magdalena, Martinez, Aurora, Pérez, Belén
Pubblicazione 2013

Metabolic Serendipities of Expanded Newborn Screening

di Yahyaoui, Raquel, Blasco-Alonso, Javier, Gonzalo-Marín, Montserrat, Benito, Carmen, Serrano-Nieto, Juliana, González-Gallego, Inmaculada, Ruiz-Sala, Pedro, Pérez, Belén, González-Lamuño, Domingo
Pubblicato in Genes (Basel) (2020)

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

di 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
Pubblicato in J Clin Med (2019)