4-[(tert-Butyl­dimethyl­sil­yl)­oxy]-6-meth­oxy-7-methyl-5-(oxiran-2-ylmeth­yl)-2-benzofuran-3(1H)-one

por Malachowska-Ugarte, Magdalena, Cholewinski, Grzegorz, Chojnacki, Jaroslaw, Dzierzbicka, Krystyna
Publicado 2011

Antimicrobial, Antioxidant, and Immunomodulatory Properties of Essential Oils: A Systematic Review

por Valdivieso-Ugarte, Magdalena, Gomez-Llorente, Carolina, Plaza-Díaz, Julio, Gil, Ángel
Publicado 2019

Endoplasmic Reticulum Stress and Autophagy in Homocystinuria Patients with Remethylation Defects

por Martínez-Pizarro, Ainhoa, Desviat, Lourdes R., Ugarte, Magdalena, Pérez, Belén, Richard, Eva
Publicado 2016

A Sensitive Assay System To Test Antisense Oligonucleotides for Splice Suppression Therapy in the Mouse Liver

por Gallego-Villar, Lorena, Viecelli, Hiu Man, Pérez, Belén, Harding, Cary O, Ugarte, Magdalena, Thöny, Beat, Desviat, Lourdes R
Publicado 2014

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

Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man

por Rivera-Barahona, Ana, Sánchez-Alcudia, Rocío, Viecelli, Hiu Man, Rüfenacht, Veronique, Pérez, Belén, Ugarte, Magdalena, Häberle, Johannes, Thöny, Beat, Desviat, Lourdes Ruiz
Publicado 2015

Correction: Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man

por Rivera-Barahona, Ana, Sánchez-Alcudia, Rocío, Viecelli, Hiu Man, Rüfenacht, Veronique, Pérez, Belén, Ugarte, Magdalena, Häberle, Johannes, Thöny, Beat, Desviat, Lourdes Ruiz
Publicado 2015

DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress

por Yuste-Checa, Patricia, Vega, Ana I., Martín-Higueras, Cristina, Medrano, Celia, Gámez, Alejandra, Desviat, Lourdes R., Ugarte, Magdalena, Pérez-Cerdá, Celia, Pérez, Belén
Publicado 2017

Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia

por Rivera-Barahona, Ana, Fulgencio-Covián, Alejandro, Pérez-Cerdá, Celia, Ramos, Ricardo, Barry, Michael A., Ugarte, Magdalena, Pérez, Belén, Richard, Eva, Desviat, Lourdes R
Publicado 2017

Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases

por Alcaide, Patricia, Ferrer-López, Isaac, Gutierrez, Leticia, Leal, Fatima, Martín-Hernández, Elena, Quijada-Fraile, Pilar, Bellusci, Marcello, Moráis, Ana, Pedrón-Giner, Consuelo, Rausell, Dolores, Correcher, Patricia, Unceta, María, Stanescu, Sinziana, Ugarte, Magdalena, Ruiz-Sala, Pedro, Pérez, Belén
Publicado 2022

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

The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1

por Sánchez‐Lijarcio, Obdulia, Yubero, Delia, Leal, Fátima, Couce, María L., González Gutiérrez‐Solana, Luis, López‐Laso, Eduardo, García‐Cazorla, Àngels, Pías‐Peleteiro, Leticia, de Azua Brea, Begoña, Ibáñez‐Micó, Salvador, Mateo‐Martínez, Gonzalo, Troncoso‐Schifferli, Monica, Witting‐Enriquez, Scarlet, Ugarte, Magdalena, Artuch, Rafael, 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

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region

por Martín‐Rivada, Álvaro, Palomino Pérez, Laura, Ruiz‐Sala, Pedro, Navarrete, Rosa, Cambra Conejero, Ana, Quijada Fraile, Pilar, Moráis López, Ana, Belanger‐Quintana, Amaya, Martín‐Hernández, Elena, Bellusci, Marcello, Cañedo Villaroya, Elvira, Chumillas Calzada, Silvia, García Silva, María Teresa, Bergua Martínez, Ana, Stanescu, Sinziana, Martínez‐Pardo Casanova, Mercedes, Ruano, Miguel L. F., Ugarte, Magdalena, Pérez, Belén, Pedrón‐Giner, Consuelo
Publicado 2022

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