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

par 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
Publié dans Sci Rep (2019)

Coenzyme Q(10) and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III

par Yubero, Dèlia, Montero, Raquel, O’Callaghan, Mar, Pineda, Mercè, Meavilla, Silvia, Delgadillo, Veronica, Sierra, Cristina, Altimira, Laura, Navas, Plácido, Pope, Simon, Oppenheim, Marcus, Neergheen, Viruna, Ghosh, Arunabha, Mills, Phillipa, Clayton, Peter, Footitt, Emma, Cleary, Maureen, Hargreaves, Iain, Jones, Simon A., Heales, Simon, Artuch, Rafael
Publié dans JIMD Rep (2015)

Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism

par Castells, Alba-Aina, Gueraldi, Daniela, Balada, Rafel, Tristán-Noguero, Alba, Cortès-Saladelafont, Elisenda, Ramos, Federico, Meavilla, Silvia, De Los Santos, Mariela, Garcia-Volpe, Camila, Colomé, Roser, Couce, Maria Luz, Sierra, Cristina, Ormazábal, Aida, Batllori, Marta, Artuch, Rafael, Armstrong, Judith, Alcántara, Soledad, Garcia-Cazorla, Àngels
Publié dans Sci Rep (2019)

Implementation of second-tier tests in newborn screening for the detection of vitamin B(12) related acquired and genetic disorders: results on 258,637 newborns

par Pajares, Sonia, Arranz, Jose Antonio, Ormazabal, Aida, Del Toro, Mireia, García-Cazorla, Ángeles, Navarro-Sastre, Aleix, López, Rosa María, Meavilla, Silvia María, de los Santos, Mariela Mercedes, García-Volpe, Camila, de Aledo-Castillo, Jose Manuel González, Argudo, Ana, Marín, Jose Luís, Carnicer, Clara, Artuch, Rafael, Tort, Frederic, Gort, Laura, Fernández, Rosa, García-Villoria, Judit, Ribes, Antonia
Publié dans Orphanet J Rare Dis (2021)

Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

par Martín-Hernández, Elena, Aldámiz-Echevarría, Luis, Castejón-Ponce, Esperanza, Pedrón-Giner, Consuelo, Couce, María Luz, Serrano-Nieto, Juliana, Pintos-Morell, Guillem, Bélanger-Quintana, Amaya, Martínez-Pardo, Mercedes, García-Silva, María Teresa, Quijada-Fraile, Pilar, Vitoria-Miñana, Isidro, Dalmau, Jaime, Lama-More, Rosa A, Bueno-Delgado, María Amor, del Toro-Riera, Mirella, García-Jiménez, Inmaculada, Sierra-Córcoles, Concepción, Ruiz-Pons, Mónica, Peña-Quintana, Luis J, Vives-Piñera, Inmaculada, Moráis, Ana, Balmaseda-Serrano, Elena, Meavilla, Silvia, Sanjurjo-Crespo, Pablo, Pérez-Cerdá, Celia
Publié dans Orphanet J Rare Dis (2014)