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openAccessDesviatLR_GenerationAndCharacterization.pdf.jpg22-may-2019Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB geneLópez-Márquez, Arístides CSIC ORCID; Alonso-Barroso, Esmeralda; Cerro-Tello, Gema; Bravo-Alonso, Irene; Arribas-Carreira, Laura; Briso-Montiano, Álvaro CSIC ORCID; Navarrete, Rosa; Pérez-Cerdá, Celia; Ugarte, Magdalena CSIC ; Pérez, Belén CSIC ORCID; Desviat, Lourdes R. CSIC ORCID; Richard, Eva CSIC ORCIDartículo
openAccessPérezB_GenerationandCharacterizationofaHuman.pdf.jpg16-jul-2019Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC geneArribas-Carreira, Laura; Bravo-Alonso, Irene; López-Márquez, Arístides CSIC ORCID; Alonso-Barroso, Esmeralda; Briso-Montiano, Álvaro CSIC ORCID; Arroyo, Ignacio; Ugarte, Magdalena CSIC ; Pérez, Belén CSIC ORCID; Pérez-Cerdá, Celia; Rodríguez-Pombo, Pilar CSIC ORCID; Richard, Eva CSIC ORCIDartículo
openAccessDesviatLr_GenerationAndCharacterization.pdf.jpg22-jul-2017Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA geneAlonso-Barroso, Esmeralda; Brasil, Sandra CSIC ORCID; Briso-Montiano, Álvaro CSIC ORCID; Navarrete, Rosa; Pérez-Cerdá, Celia; Ugarte, Magdalena CSIC ; Pérez, Belén CSIC ORCID; Desviat, Lourdes R. CSIC ORCID; Richard, Eva CSIC ORCIDartículo
openAccessPérezB_GenerationAndCharactization.pdf.jpg5-abr-2018Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB typeRichard, Eva CSIC ORCID; Brasil, Sandra CSIC ORCID; Briso-Montiano, Álvaro CSIC ORCID; Alonso-Barroso, Esmeralda; Gallardo, M. Esther CSIC ORCID; Merinero, Begoña CSIC; Ugarte, Magdalena CSIC ; Desviat, Lourdes R. CSIC ORCID; Pérez, Belén CSIC ORCIDartículo
openAccessIdentification_34_Rivera_postprint.pdf.jpgnov-2018Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associationsRivera-Barahona, Ana CSIC; Navarrete, Rosa; García-Rodríguez, Raquel; Richard, Eva CSIC ORCID; Ugarte, Magdalena CSIC ; Pérez-Cerdá, Celia; Pérez, Belén CSIC ORCID; Gámez, Alejandra CSIC ORCID; Desviat, Lourdes R. CSIC ORCIDartículo
ijms-25-02814.pdf.jpg28-feb-2024Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia PatientArribas-Carreira, Laura; Castro, Margarita; García, Fernando; Navarrete, Rosa; Bravo-Alonso, Irene; Zafra, Francisco CSIC ORCID; Ugarte, Magdalena CSIC; Richard, Eva CSIC ORCID; Pérez, Belén CSIC ORCID; Rodríguez-Pombo, Pilar CSIC ORCIDartículo
openAccessPérezB_MethylmalonicAciduriaCBIB.pdf.jpg2015Methylmalonic aciduria cblB type: Characterization of two novel mutations and mitochondrial dysfunction studiesBrasil, Sandra CSIC ORCID; Richard, Eva CSIC ORCID; Jorge-Finnigan, A.; Leal, Fátima CSIC; Merinero, Begoña CSIC; Banerjee, R.; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC ; Pérez, Belén CSIC ORCIDartículo
closedAccessaccesoRestringido.pdf.jpg2013Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defectsRichard, Eva CSIC ORCID; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC ; Pérez, Belén CSIC ORCIDartículo
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