Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Aida García-Torralba"'
Autor:
Virginia Nieto-Romero, Aida García-Torralba, Andrea Molinos-Vicente, Francisco José Moya, Sandra Rodríguez-Perales, Ramón García-Escudero, Eduardo Salido, José-Carlos Segovia, María García-Bravo
Publikováno v:
iScience, Vol 27, Iss 4, Pp 109530- (2024)
Summary: Primary hyperoxaluria type 1 (PH1) is a rare inherited metabolic disorder characterized by oxalate overproduction in the liver, resulting in renal damage. It is caused by mutations in the AGXT gene. Combined liver and kidney transplantation
Externí odkaz:
https://doaj.org/article/411c37ce7ba4439a93a3142a4e678f12
Autor:
Susana Navarro, Oscar Quintana-Bustamante, Rebeca Sanchez-Dominguez, Sergio Lopez-Manzaneda, Isabel Ojeda-Perez, Aida Garcia-Torralba, Omaira Alberquilla, Kenneth Law, Brian C. Beard, Antonella Bastone, Michael Rothe, Mariela Villanueva, Juan C. Ramirez, Sara Fañanas-Baquero, Virginia Nieto-Romero, Andrea Molinos-Vicente, Sonia Gutierrez, Eileen Nicoletti, María García-Bravo, Juan A. Bueren, Jonathan D. Schwartz, Jose-Carlos Segovia
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 22, Iss , Pp 350-359 (2021)
Pyruvate kinase deficiency (PKD) is a rare autosomal recessive disorder caused by mutations in the PKLR gene. PKD is characterized by non-spherocytic hemolytic anemia of variable severity and may be fatal in some cases during early childhood. Althoug
Externí odkaz:
https://doaj.org/article/520b1bb80d5c442ebaab57f472bd9735
Autor:
Sergio López-Manzaneda, Isabel Ojeda-Pérez, Nerea Zabaleta, Aída García-Torralba, Omaira Alberquilla, Raúl Torres, Rebeca Sánchez-Domínguez, Laura Torella, Emmanuel Olivier, Joanne Mountford, Juan C. Ramírez, Juan A. Bueren, Gloria González-Aseguinolaza, Jose-Carlos Segovia
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 19, Iss , Pp 426-437 (2020)
The development of advanced gene and cell therapies for the treatment of genetic diseases requires reliable animal and cellular models to test their efficacy. Moreover, the availability of the target human primary cells of these therapies is reduced
Externí odkaz:
https://doaj.org/article/a89d25dc6deb4878ad9c49dd61bdf7ef