Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
openAccess | | 22-may-2019 | 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 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 ORCID | artículo |
openAccess | | 16-jul-2019 | 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 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 ORCID | artículo |
openAccess | | 22-jul-2017 | Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene | Alonso-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 ORCID | artículo |
openAccess | | 5-abr-2018 | Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type | Richard, 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 ORCID | artículo |
openAccess | | 1-dic-2021 | Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures | Briso-Montiano, Álvaro CSIC ORCID; Caño-Ochoa, Francisco del CSIC ORCID; Vilas, Alicia; Velázquez-Campoy, Adrián; Rubio, Vicente CSIC ORCID ; Pérez, Belén CSIC ORCID; Ramón-Maiques, Santiago CSIC ORCID | artículo |
openAccess | | feb-2018 | New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type | Brasil, Sandra CSIC ORCID; Briso-Montiano, Álvaro CSIC ORCID; Gámez, Alejandra CSIC ORCID; Underhaug, Jarl; Flydal, Marte I.; Desviat, Lourdes R. CSIC ORCID; Merinero, Begoña CSIC; Ugarte, Magdalena CSIC ; Martínez, Aurora; Pérez, Belén CSIC ORCID | artículo |
openAccess | | mar-2018 | Protein misfolding diseases: Prospects of pharmacological treatment | Gámez, Alejandra CSIC ORCID; Yuste-Checa, Patricia CSIC; Brasil, Sandra CSIC ORCID; Briso-Montiano, Álvaro CSIC ORCID; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC ; Pérez-Cerdá, Celia; Pérez, Belén CSIC ORCID | artículo |