Asymmetric Dimethylarginine, Endothelial Dysfunction and Renal Disease

por Aldámiz-Echevarría, Luis, Andrade, Fernando
Publicado 2012

Enzyme replacement therapy in Hurler syndrome after failure of hematopoietic transplant

por Arranz, Leonor, Aldamiz-Echevarria, Luis
Publicado 2015

Spanish Fabry and Gaucher disease patients show striking differences in Beliefs about Medicines (BMQ) and Brief Illness Perception (BIPQ) questionnaires

por González-Lamuño, Domingo, Aldamiz-Echevarría, Luis, Pintos-Morell, Guillem
Publicado 2022

Profile of sodium phenylbutyrate granules for the treatment of urea-cycle disorders: patient perspectives

por Peña-Quintana, Luis, Llarena, Marta, Reyes-Suárez, Desiderio, Aldámiz-Echevarria, Luis
Publicado 2017

Influence of phenylketonuria's diet on dimethylated arginines and methylation cycle

por Andrade, Fernando, López-Suárez, Olalla, Llarena, Marta, Couce, María L., Aldámiz-Echevarría, Luis
Publicado 2017

Treatment adherence in tyrosinemia type 1 patients

por González-Lamuño, Domingo, Sánchez-Pintos, Paula, Andrade, Fernando, Couce, María L., Aldámiz-Echevarría, Luís
Publicado 2021

Retrospective study to identify risk factors for chronic kidney disease in children with congenital solitary functioning kidney detected by neonatal renal ultrasound screening

por Urisarri, Adela, Gil, Marta, Mandiá, Natalia, Aldamiz-Echevarría, Luís, Iria, Roca, González-Lamuño, Domingo, Couce, María-Luz
Publicado 2018

Micronutrient in hyperphenylalaninemia

por Crujeiras, Vanesa, Aldámiz-Echevarría, Luís, Dalmau, Jaume, Vitoria, Isidro, Andrade, Fernando, Roca, Iria, Leis, Rosaura, Fermandez-Marmiesse, Ana, Couce, María L.
Publicado 2015

Lipid profile status and other related factors in patients with Hyperphenylalaninaemia

por Couce, María L., Vitoria, Isidro, Aldámiz-Echevarría, Luís, Fernández-Marmiesse, Ana, Roca, Iria, Llarena, Marta, Sánchez-Pintos, Paula, Leis, Rosaura, Hermida, Alvaro
Publicado 2016

Effects of different arachidonic acid supplementation on psychomotor development in very preterm infants; a randomized controlled trial

por Alshweki, Ayham, Muñuzuri, Alejandro Pérez, Baña, Ana M., de Castro, Ma. José, Andrade, Fernando, Aldamiz-Echevarría, Luís, de Pipaón, Miguel Sáenz, Fraga, José M., Couce, María L.
Publicado 2015

Carbohydrate status in patients with phenylketonuria

por Couce, María L., Sánchez-Pintos, Paula, Vitoria, Isidro, De Castro, María-José, Aldámiz-Echevarría, Luís, Correcher, Patricia, Fernández-Marmiesse, Ana, Roca, Iria, Hermida, Alvaro, Martínez-Olmos, Miguel, Leis, Rosaura
Publicado 2018

Fabry disease in the Spanish population: observational study with detection of 77 patients

por Vieitez, Irene, Souto-Rodriguez, Olga, Fernandez-Mosquera, Lorena, San Millan, Beatriz, Teijeira, Susana, Fernandez-Martin, Julian, Martinez-Sanchez, Felisa, Aldamiz-Echevarria, Luis Jose, Lopez-Rodriguez, Monica, Navarro, Carmen, Ortolano, Saida
Publicado 2018

Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain

por Couce, María Luz, Sánchez-Pintos, Paula, Aldámiz-Echevarría, Luís, Vitoria, Isidro, Navas, Victor, Martín-Hernández, Elena, García-Volpe, Camila, Pintos, Guillem, Peña-Quintana, Luis, Hernández, Tomás, Gil, David, Sánchez-Valverde, Félix, Bueno, María, Roca, Iria, López-Ruzafa, Encarna, Díaz-Fernández, Carmen
Publicado 2019

Betaine anhydrous in homocystinuria: results from the RoCH registry

por Valayannopoulos, Vassili, Schiff, Manuel, Guffon, Nathalie, Nadjar, Yann, García-Cazorla, Angels, Martinez-Pardo Casanova, Mercedes, Cano, Aline, Couce, Maria L., Dalmau, Jaime, Peña-Quintana, Luis, Rigalleau, Vincent, Touati, Guy, Aldamiz-Echevarria, Luis, Cathebras, Pascal, Eyer, Didier, Brunet, Dominique, Damaj, Léna, Dobbelaere, Dries, Gay, Claire, Hiéronimus, Sylvie, Levrat, Virginie, Maillot, François
Publicado 2019

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

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

por Mayorandan, Sebene, Meyer, Uta, Gokcay, Gülden, Segarra, Nuria Garcia, de Baulny, Hélène Ogier, van Spronsen, Francjan, Zeman, Jiri, de Laet, Corinne, Spiekerkoetter, Ute, Thimm, Eva, Maiorana, Arianna, Dionisi-Vici, Carlo, Moeslinger, Dorothea, Brunner-Krainz, Michaela, Lotz-Havla, Amelie Sophia, Cocho de Juan, José Angel, Couce Pico, Maria Luz, Santer, René, Scholl-Bürgi, Sabine, Mandel, Hanna, Bliksrud, Yngve Thomas, Freisinger, Peter, Aldamiz-Echevarria, Luis Jose, Hochuli, Michel, Gautschi, Matthias, Endig, Jessica, Jordan, Jens, McKiernan, Patrick, Ernst, Stefanie, Morlot, Susanne, Vogel, Arndt, Sander, Johannes, Das, Anibh Martin
Publicado 2014