Pathogenic variants of the coenzyme A biosynthesis‐associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal‐recessive dilated cardiomyopathy
Bravo‐Alonso, Irene, Morin, Matías, Arribas‐Carreira, Laura, Álvarez, Mar, Pedrón‐Giner, Consuelo, Soletto, Lucia, Santolaria, Carlos, Ramón‐Maiques, Santiago, Ugarte, Magdalena, Rodríguez‐Pombo, Pilar, Ariño, Joaquín, Moreno‐Pelayo, Miguel Ángel, Pérez, Belén
Published in Journal of inherited metabolic disease (01.03.2023)
Published in Journal of inherited metabolic disease (01.03.2023)
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Journal Article
Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia Patient
Arribas-Carreira, Laura, Castro, Margarita, García, Fernando, Navarrete, Rosa, Bravo-Alonso, Irene, Zafra, Francisco, Ugarte, Magdalena, Richard, Eva, Pérez, Belén, Rodríguez-Pombo, Pilar
Published in International journal of molecular sciences (28.02.2024)
Published in International journal of molecular sciences (28.02.2024)
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Journal Article
Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature
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
Published in Orphanet journal of rare diseases (21.06.2022)
Published in Orphanet journal of rare diseases (21.06.2022)
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Journal Article
Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease
Bravo‐Alonso, Irene, Navarrete, Rosa, Arribas‐Carreira, Laura, Perona, Almudena, Abia, David, Couce, María Luz, García‐Cazorla, Angels, Morais, Ana, Domingo, Rosario, Ramos, María Antonia, Swanson, Michael A., Hove, Johan L.K., Ugarte, Magdalena, Pérez, Belén, Pérez‐Cerdá, Celia, Rodríguez‐Pombo, Pilar
Published in Human mutation (01.06.2017)
Published in Human mutation (01.06.2017)
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Journal Article
Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene
López-Márquez, Arístides, Alonso-Barroso, Esmeralda, Cerro-Tello, Gema, Bravo-Alonso, Irene, Arribas-Carreira, Laura, Briso-Montiano, Álvaro, Navarrete, Rosa, Pérez-Cerdá, Celia, Ugarte, Magdalena, Pérez, Belén, Desviat, Lourdes R., Richard, Eva
Published in Stem cell research (01.07.2019)
Published in Stem cell research (01.07.2019)
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Journal Article
Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene
Arribas-Carreira, Laura, Bravo-Alonso, Irene, López-Márquez, Arístides, Alonso-Barroso, Esmeralda, Briso-Montiano, Álvaro, Arroyo, Ignacio, Ugarte, Magdalena, Pérez, Belén, Pérez-Cerdá, Celia, Rodríguez-Pombo, Pilar, Richard, Eva
Published in Stem cell research (01.08.2019)
Published in Stem cell research (01.08.2019)
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Journal Article
Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment
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
Published in Journal of clinical medicine (01.11.2019)
Published in Journal of clinical medicine (01.11.2019)
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Journal Article
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
Coughlin, Curtis R., Swanson, Michael A., Kronquist, Kathryn, Acquaviva, Cécile, Hutchin, Tim, Rodríguez-Pombo, Pilar, Väisänen, Marja-Leena, Spector, Elaine, Creadon-Swindell, Geralyn, Brás-Goldberg, Ana M., Rahikkala, Elisa, Moilanen, Jukka S., Mahieu, Vincent, Matthijs, Gert, Bravo-Alonso, Irene, Pérez-Cerdá, Celia, Ugarte, Magdalena, Vianey-Saban, Christine, Scharer, Gunter H., Van Hove, Johan L.K.
Published in Genetics in medicine (01.01.2017)
Published in Genetics in medicine (01.01.2017)
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Journal Article
Corrigendum to “Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene” [Stem Cell Research, Volume 38, July 2019, 101469]
López-Márquez, Arístides, Alonso-Barroso, Esmeralda, Cerro-Tello, Gema, Bravo-Alonso, Irene, Arribas-Carreira, Laura, Briso-Montiano, Álvaro, Navarrete, Rosa, Pérez-Cerdá, Celia, Ugarte, Magdalena, Pérez, Belén, Desviat, Lourdes R., Richard, Eva
Published in Stem cell research (01.08.2019)
Published in Stem cell research (01.08.2019)
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Journal Article
Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
Coughlin, Curtis R, Swanson, Michael A, Kronquist, Kathryn, Acquaviva, Cécile, Hutchin, Tim, Rodríguez-Pombo, Pilar, Väisänen, Marja-Leena, Spector, Elaine, Creadon-Swindell, Geralyn, Brás-Goldberg, Ana M, Rahikkala, Elisa, Moilanen, Jukka S, Mahieu, Vincent, Matthijs, Gert, Bravo-Alonso, Irene, Pérez-Cerdá, Celia, Ugarte, Magdalena, Vianey-Saban, Christine, Scharer, Gunter H, Van Hove, Johan L K
Published in Genetics in medicine (01.09.2018)
Published in Genetics in medicine (01.09.2018)
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