Mosaicism in Fanconi anemia: concise review and evaluation of published cases with focus on clinical course of blood count normalization

por Nicoletti, Eileen, Rao, Gayatri, Bueren, Juan A., Río, Paula, Navarro, Susana, Surrallés, Jordi, Choi, Grace, Schwartz, Jonathan D.
Publicado 2020

Who should be eligible for gene therapy clinical trials in red blood cell pyruvate kinase deficiency (PKD)?: Toward an expanded definition of severe PKD

por Schwartz, Jonathan D., Barcellini, Wilma, Grace, Rachel F., Bianchi, Paola, Zanella, Alberto, López Lorenzo, José Luis, Sevilla, Julián, Shah, Ami J., Glader, Bertil, Nicoletti, Eileen, Navarro Ordoñez, Susana, Segovia, José Carlos
Publicado 2022

Gene therapy restores the transcriptional program of hematopoietic stem cells in Fanconi anemia

por Lasaga, Miren, Río, Paula, Vilas-Zornoza, Amaia, Planell, Nuria, Navarro, Susana, Alignani, Diego, Fernández-Varas, Beatriz, Mouzo, Daniel, Zubicaray, Josune, Pujol, Roser M., Nicoletti, Eileen, Schwartz, Jonathan D., Sevilla, Julián, Ainciburi, Marina, Ullate-Agote, Asier, Surrallés, Jordi, Perona, Rosario, Sastre, Leandro, Prosper, Felipe, Gomez-Cabrero, David, Bueren, Juan A.
Publicado 2023

Preclinical studies of efficacy thresholds and tolerability of a clinically ready lentiviral vector for pyruvate kinase deficiency treatment

por Navarro, Susana, Quintana-Bustamante, Oscar, Sanchez-Dominguez, Rebeca, Lopez-Manzaneda, Sergio, Ojeda-Perez, Isabel, Garcia-Torralba, Aida, Alberquilla, Omaira, Law, Kenneth, Beard, Brian C., Bastone, Antonella, Rothe, Michael, Villanueva, Mariela, Ramirez, Juan C., Fañanas-Baquero, Sara, Nieto-Romero, Virginia, Molinos-Vicente, Andrea, Gutierrez, Sonia, Nicoletti, Eileen, García-Bravo, María, Bueren, Juan A., Schwartz, Jonathan D., Segovia, Jose-Carlos
Publicado 2021