Chemotherapy in a Breast Cancer Patient Heterozygous Carrier of Ornithine Transcarbamylase Deficiency

por Palka-Kotlowska, Magda, Cabezón-Gutiérrez, Luis, Custodio-Cabello, Sara, Quijada-Fraile, PIlar, Chumillas-Calzada, Silvia
Publicado 2020

A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome

por Rivera, Henry, Martín-Hernández, Elena, Delmiro, Aitor, García-Silva, María Teresa, Quijada-Fraile, Pilar, Muley, Rafael, Arenas, Joaquín, Martín, Miguel A, Martínez-Azorín, Francisco
Publicado 2013

Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases

por Alcaide, Patricia, Ferrer-López, Isaac, Gutierrez, Leticia, Leal, Fatima, Martín-Hernández, Elena, Quijada-Fraile, Pilar, Bellusci, Marcello, Moráis, Ana, Pedrón-Giner, Consuelo, Rausell, Dolores, Correcher, Patricia, Unceta, María, Stanescu, Sinziana, Ugarte, Magdalena, Ruiz-Sala, Pedro, Pérez, Belén
Publicado 2022

Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism

por Soriano-Sexto, Alejandro, Gallego, Diana, Leal, Fátima, Castejón-Fernández, Natalia, Navarrete, Rosa, Alcaide, Patricia, Couce, María L., Martín-Hernández, Elena, Quijada-Fraile, Pilar, Peña-Quintana, Luis, Yahyaoui, Raquel, Correcher, Patricia, Ugarte, Magdalena, Rodríguez-Pombo, Pilar, Pérez, Belén
Publicado 2022

Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients

por Bélanger-Quintana, Amaya, Arrieta Blanco, Francisco, Barrio-Carreras, Delia, Bergua Martínez, Ana, Cañedo Villarroya, Elvira, García-Silva, María Teresa, Lama More, Rosa, Martín-Hernández, Elena, López, Ana Moráis, Morales-Conejo, Montserrat, Pedrón-Giner, Consuelo, Quijada-Fraile, Pilar, Stanescu, Sinziana, Casanova, Mercedes Martínez-Pardo
Publicado 2022

Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome

por Quijada-Fraile, Pilar, O’Callaghan, Mar, Martín-Hernández, Elena, Montero, Raquel, Garcia-Cazorla, Àngels, de Aragón, Ana Martínez, Muchart, Jordi, Málaga, Ignacio, Pardo, Rafael, García-Gonzalez, Pedro, Jou, Cristina, Montoya, Julio, Emperador, Sonia, Ruiz-Pesini, Eduardo, Arenas, Joaquín, Martin, Miguel Angel, Ormazabal, Aida, Pineda, Mercè, García-Silva, María T, Artuch, Rafael
Publicado 2014

Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

por Quijada-Fraile, Pilar, Arranz Canales, Elena, Martín-Hernández, Elena, Ballesta-Martínez, María Juliana, Guillén-Navarro, Encarna, Pintos-Morell, Guillem, Moltó-Abad, Marc, Moreno-Martínez, David, García Morillo, Salvador, Blasco-Alonso, Javier, Couce, María Luz, Gil Sánchez, Ricardo, Cortès-Saladelafont, Elisenda, López Rodríguez, Mónica A., García-Silva, María Teresa, Morales Conejo, Montserrat
Publicado 2021

Genes and Variants Underlying Human Congenital Lactic Acidosis—From Genetics to Personalized Treatment

por Bravo-Alonso, Irene, Navarrete, Rosa, Vega, Ana Isabel, Ruíz-Sala, Pedro, García Silva, María Teresa, Martín-Hernández, Elena, Quijada-Fraile, Pilar, Belanger-Quintana, Amaya, Stanescu, Sinziana, Bueno, María, Vitoria, Isidro, Toledo, Laura, Couce, María Luz, García-Jiménez, Inmaculada, Ramos-Ruiz, Ricardo, Martín, Miguel Ángel, Desviat, Lourdes R., Ugarte, Magdalena, Pérez-Cerdá, Celia, Merinero, Begoña, Pérez, Belén, Rodríguez-Pombo, Pilar
Publicado 2019

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region

por Martín‐Rivada, Álvaro, Palomino Pérez, Laura, Ruiz‐Sala, Pedro, Navarrete, Rosa, Cambra Conejero, Ana, Quijada Fraile, Pilar, Moráis López, Ana, Belanger‐Quintana, Amaya, Martín‐Hernández, Elena, Bellusci, Marcello, Cañedo Villaroya, Elvira, Chumillas Calzada, Silvia, García Silva, María Teresa, Bergua Martínez, Ana, Stanescu, Sinziana, Martínez‐Pardo Casanova, Mercedes, Ruano, Miguel L. F., Ugarte, Magdalena, Pérez, Belén, Pedrón‐Giner, Consuelo
Publicado 2022

Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain

por Martín-Hernández, Elena, Quijada-Fraile, Pilar, Correcher, Patricia, Meavilla, Silvia, Sánchez-Pintos, Paula, de las Heras Montero, Javier, Blasco-Alonso, Javier, Dougherty, Lucy, Marquez, Ana, Peña-Quintana, Luis, Cañedo, Elvira, García-Jimenez, María Concepción, Moreno Lozano, Pedro Juan, Murray Hurtado, Mercedes, Camprodon Gómez, María, Barrio-Carreras, Delia, de los Santos, Mariela, del Toro, Mireia, Couce, María L., Vitoria Miñana, Isidro, Morales Conejo, Montserrat, Bellusci, Marcello
Publicado 2022

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

por 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
Publicado 2014

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

por Hochberg, Irit, Demain, Leigh A.M., Richer, Julie, Thompson, Kyle, Urquhart, Jill E., Rea, Alessandro, Pagarkar, Waheeda, Rodríguez-Palmero, Agustí, Schlüter, Agatha, Verdura, Edgard, Pujol, Aurora, Quijada-Fraile, Pilar, Amberger, Albert, Deutschmann, Andrea J., Demetz, Sandra, Gillespie, Meredith, Belyantseva, Inna A., McMillan, Hugh J., Barzik, Melanie, Beaman, Glenda M., Motha, Reeya, Ng, Kah Ying, O’Sullivan, James, Williams, Simon G., Bhaskar, Sanjeev S., Lawrence, Isabella R., Jenkinson, Emma M., Zambonin, Jessica L., Blumenfeld, Zeev, Yalonetsky, Sergey, Oerum, Stephanie, Rossmanith, Walter, Yue, Wyatt W., Zschocke, Johannes, Munro, Kevin J., Battersby, Brendan J., Friedman, Thomas B., Taylor, Robert W., O’Keefe, Raymond T., Newman, William G.
Publicado 2021