Natural history of Sanfilippo syndrome in Spain

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

A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project – a 2-year follow-up study

por Colón, Cristóbal, Alvarez, J. Victor, Castaño, Cristina, Gutierrez-Solana, Luís G., Marquez, Ana M., O’Callaghan, María, Sánchez-Valverde, Félix, Yeste, Carmen, Couce, María-Luz
Publicado 2017

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

por Vidal, Silvia, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, Blasco, Laura, Trotta, Jean-Rémi, Derdak, Sophia, del Mar O’Callaghan, Maria, Garcia-Cazorla, Àngels, Pineda, Mercè, Armstrong, Judith
Publicado 2017

Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

por Vidal, Silvia, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, Blasco, Laura, Trotta, Jean-Rémi, Derdak, Sophia, del Mar O’Callaghan, Maria, Garcia-Cazorla, Àngels, Pineda, Mercè, Armstrong, Judith
Publicado 2021

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

por 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
Publicado 2013

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

por 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
Publicado 2019

Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome

por Emperador, Sonia, Garrido-Pérez, Nuria, Amezcua-Gil, Javier, Gaudó, Paula, Andrés-Sanz, Julio Alberto, Yubero, Delia, Fernández-Marmiesse, Ana, O’Callaghan, Maria M., Ortigoza-Escobar, Juan D., Iriondo, Marti, Ruiz-Pesini, Eduardo, García-Cazorla, Angels, Gil-Campos, Mercedes, Artuch, Rafael, Montoya, Julio, Bayona-Bafaluy, María Pilar
Publicado 2020

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

por 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
Publicado 2017

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

por Jou, Cristina, Ortigoza-Escobar, Juan D., O’Callaghan, Maria M., Nascimento, Andres, Darling, Alejandra, Pias-Peleteiro, Leticia, Perez-Dueñas, Belén, Pineda, Mercedes, Codina, Anna, Arjona, César, Armstrong, Judith, Palau, Francesc, Ribes, Antonia, Gort, Laura, Tort, Frederic, Navas, Placido, Ruiz-Pesini, Eduardo, Emperador, Sonia, Lopez-Gallardo, Ester, Bayona-Bafaluy, Pilar, Montero, Raquel, Jimenez-Mallebrera, Cecilia, Garcia-Cazorla, Angels, Montoya, Julio, Yubero, Delia, Artuch, Rafael
Publicado 2019

Clinical presentation and proteomic signature of patients with TANGO2 mutations

por Mingirulli, Nadja, Pyle, Angela, Hathazi, Denisa, Alston, Charlotte L., Kohlschmidt, Nicolai, O'Grady, Gina, Waddell, Leigh, Evesson, Frances, Cooper, Sandra B. T., Turner, Christian, Duff, Jennifer, Topf, Ana, Yubero, Delia, Jou, Cristina, Nascimento, Andrés, Ortez, Carlos, García‐Cazorla, Angels, Gross, Claudia, O'Callaghan, Maria, Santra, Saikat, Preece, Maryanne A., Champion, Michael, Korenev, Sergei, Chronopoulou, Efsthatia, Anirban, Majumdar, Pierre, Germaine, McArthur, Daniel, Thompson, Kyle, Navas, Placido, Ribes, Antonia, Tort, Frederic, Schlüter, Agatha, Pujol, Aurora, Montero, Raquel, Sarquella, Georgia, Lochmüller, Hanns, Jiménez‐Mallebrera, Cecilia, Taylor, Robert W., Artuch, Rafael, Kirschner, Janbernd, Grünert, Sarah C., Roos, Andreas, Horvath, Rita
Publicado 2019