Natural history of Sanfilippo syndrome in Spain

по Delgadillo, Verónica, O’Callaghan, Maria del Mar, Gort, Laura, Coll, Maria Josep, Pineda, Mercedes
Опубликовано 2013

Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome

по Duarte, Sofia Temudo, Armstrong, Judith, Roche, Ana, Ortez, Carlos, Pérez, Ana, O’Callaghan, Maria del Mar, Pereira, Antonina, Sanmartí, Francesc, Ormazábal, Aida, Artuch, Rafael, Pineda, Mercedes, García-Cazorla, Angels
Опубликовано 2013

Plasma coenzyme Q(10) status is impaired in selected genetic conditions

по Montero, Raquel, Yubero, Delia, Salgado, Maria C., González, María Julieta, Campistol, Jaume, O’Callaghan, Maria del Mar, Pineda, Mercè, Delgadillo, Verónica, Maynou, Joan, Fernandez, Guerau, Montoya, Julio, Ruiz-Pesini, Eduardo, Meavilla, Silvia, Neergheen, Viruna, García-Cazorla, Angels, Navas, Placido, Hargreaves, Iain, Artuch, Rafael
Опубликовано в: Sci Rep (2019)

Selective elimination of mitochondrial mutations in the germline by genome editing

по Reddy, Pradeep, Ocampo, Alejandro, Suzuki, Keiichiro, Luo, Jinping, Bacman, Sandra R., Williams, Sion L., Sugawara, Atsushi, Okamura, Daiji, Tsunekawa, Yuji, Wu, Jun, Lam, David, Xiong, Xiong, Montserrat, Nuria, Esteban, Concepcion Rodriguez, Liu, Guang-Hui, Sancho-Martinez, Ignacio, Manau, Dolors, Civico, Salva, Cardellach, Francesc, O’Callaghan, Maria del Mar, Campistol, Jaime, Zhao, Huimin, Campistol, Josep Maria, Moraes, Carlos T., Belmonte, Juan Carlos Izpisua
Опубликовано в: Cell (2015)

Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease

по Andrade-Campos, Marcio, Alfonso, Pilar, Irun, Pilar, Armstrong, Judith, Calvo, Carmen, Dalmau, Jaime, Domingo, Maria-Rosario, Barbera, Jose-Luis, Cano, Horacio, Fernandez-Galán, Maria-Angeles, Franco, Rafael, Gracia, Inmaculada, Gracia-Antequera, Miguel, Ibañez, Angela, Lendinez, Francisco, Madruga, Marcos, Martin-Hernández, Elena, O’Callaghan, Maria del Mar, del Soto, Alberto Pérez, del Prado, Yolanda Ruiz, Sancho-Val, Ignacio, Sanjurjo, Pablo, Pocovi, Miguel, Giraldo, Pilar
Опубликовано в: Orphanet J Rare Dis (2017)