New challenges in management of phenylketonuria in pregnancy: a case report

por Ugalde-Abiega, Beatriz, Stanescu, Sinziana, Belanger, Amaya, Martinez-Pardo, Mercedes, Arrieta, Francisco
Publicado 2023

Síndrome de deficiencia de GLUT1 y COVID-19

por Arrieta Blanco, Francisco, Bélanger Quintana, Amaya, Bengoa Rojano, Nuria, Stanescu, Sinziana, MartinezPardo, Mercedes
Publicado 2021

Plasma CoQ10 Status in Patients with Propionic Acidaemia and Possible Benefit of Treatment with Ubiquinol

por Stanescu, Sinziana, Belanger-Quintana, Amaya, Fernández-Felix, Borja Manuel, Ruiz-Sala, Pedro, Alcaide, Patricia, Arrieta, Francisco, Martínez-Pardo, Mercedes
Publicado 2022

Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance

por Stanescu, Sinziana, Belanger-Quintana, Amaya, Fernandez-Felix, Borja Manuel, Arrieta, Francisco, Quintero, Victor, Maldonado, Maria Soledad, Alcaide, Patricia, Martínez-Pardo, Mercedes
Publicado 2021

Long‐term follow‐up with filter paper samples in patients with propionic acidemia

por Stanescu, Sinziana, Belanger‐Quintana, Amaya, Fernández‐Felix, Borja Manuel, Pérez‐Cerdá, Celia, Merinero, Begoña, Ruiz‐Sala, Pedro, Arrieta, Francisco, Martínez‐Pardo, Mercedes
Publicado 2020

Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology

por Stanescu, Sinziana, Belanger-Quintana, Amaya, Fernandez-Felix, Borja Manuel, Ruiz-Sala, Pedro, del Valle, Mercedes, Garcia, Fernando, Arrieta, Francisco, Martinez-Pardo, Mercedes
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