Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria

por Richard, Eva, Gallego-Villar, Lorena, Rivera-Barahona, Ana, Oyarzábal, Alfonso, Pérez, Belén, Rodríguez-Pombo, Pilar, Desviat, Lourdes R.
Publicado 2018

Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease

por Fernández-Guerra, Paula, Birkler, Rune I D, Merinero, Begoña, Ugarte, Magdalena, Gregersen, Niels, Rodríguez-Pombo, Pilar, Bross, Peter, Palmfeldt, Johan
Publicado 2014

Thiamine transporter-2 deficiency: outcome and treatment monitoring

por Ortigoza-Escobar, Juan Darío, Serrano, Mercedes, Molero, Marta, Oyarzabal, Alfonso, Rebollo, Mónica, Muchart, Jordi, Artuch, Rafael, Rodríguez-Pombo, Pilar, Pérez-Dueñas, Belén
Publicado 2014

Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature

por Stanescu, Sinziana, Bravo-Alonso, Irene, Belanger-Quintana, Amaya, Pérez, Belen, Medina-Diaz, Montserrat, Ruiz-Sala, Pedro, Flores, Nathaly Paola, Buenache, Raquel, Arrieta, Francisco, Rodríguez-Pombo, Pilar
Publicado 2022

Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome

por Musokhranova, Uliana, Grau, Cristina, Vergara, Cristina, Rodríguez-Pascau, Laura, Xiol, Clara, Castells, Alba A., Alcántara, Soledad, Rodríguez-Pombo, Pilar, Pizcueta, Pilar, Martinell, Marc, García-Cazorla, Angels, Oyarzábal, Alfonso
Publicado 2023

Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism

por Soriano-Sexto, Alejandro, Gallego, Diana, Leal, Fátima, Castejón-Fernández, Natalia, Navarrete, Rosa, Alcaide, Patricia, Couce, María L., Martín-Hernández, Elena, Quijada-Fraile, Pilar, Peña-Quintana, Luis, Yahyaoui, Raquel, Correcher, Patricia, Ugarte, Magdalena, Rodríguez-Pombo, Pilar, Pérez, Belén
Publicado 2022

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

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

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

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency

por Arribas-Carreira, Laura, Dallabona, Cristina, Swanson, Michael A, Farris, Joseph, Østergaard, Elsebet, Tsiakas, Konstantinos, Hempel, Maja, Aquaviva-Bourdain, Cecile, Koutsoukos, Stefanos, Stence, Nicholas V, Magistrati, Martina, Spector, Elaine B, Kronquist, Kathryn, Christensen, Mette, Karstensen, Helena G, Feichtinger, René G, Achleitner, Melanie T, Lawrence Merritt II, J, Pérez, Belén, Ugarte, Magdalena, Grünewald, Stephanie, Riela, Anthony R, Julve, Natalia, Arnoux, Jean-Baptiste, Haldar, Kasturi, Donnini, Claudia, Santer, René, Lund, Allan M, Mayr, Johannes A, Rodriguez-Pombo, Pilar, Van Hove, Johan L K
Publicado 2022