Asymmetric Dimethylarginine, Endothelial Dysfunction and Renal Disease

অনুযায়ী Aldámiz-Echevarría, Luis, Andrade, Fernando
প্রকাশিত 2012

Enzyme replacement therapy in Hurler syndrome after failure of hematopoietic transplant

অনুযায়ী Arranz, Leonor, Aldamiz-Echevarria, Luis
প্রকাশিত Mol Genet Metab Rep (2015)

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

অনুযায়ী Peña-Quintana, Luis, Llarena, Marta, Reyes-Suárez, Desiderio, Aldámiz-Echevarria, Luis
প্রকাশিত Patient Prefer Adherence (2017)

Cuando las enfermedades raras se convierten en algo urgente: los errores innatos del metabolismo en atención primaria

অনুযায়ী González-Lamuño, Domingo, Couce, María Luz, Amor Bueno, María, Aldámiz-Echevarría, Luis
প্রকাশিত Aten Primaria (2009)

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

অনুযায়ী Andrade, Fernando, López-Suárez, Olalla, Llarena, Marta, Couce, María L., Aldámiz-Echevarría, Luis
প্রকাশিত Medicine (Baltimore) (2017)

An update on the use of benzoate, phenylacetate and phenylbutyrate ammonia scavengers for interrogating and modifying liver nitrogen metabolism and its implications in urea cycle d...

অনুযায়ী de las Heras, Javier, Aldámiz-Echevarría, Luis, Martínez-Chantar, María-Luz, Delgado, Teresa C.
প্রকাশিত Expert Opin Drug Metab Toxicol (2016)

Treatment adherence in tyrosinemia type 1 patients

অনুযায়ী González-Lamuño, Domingo, Sánchez-Pintos, Paula, Andrade, Fernando, Couce, María L., Aldámiz-Echevarría, Luís
প্রকাশিত Orphanet J Rare Dis (2021)

Reliability of a visual test for the rapid detection of mucopolysaccharidoses: GAG‐test(®)

অনুযায়ী Lage, Sergio, Prieto, José A., Andrade, Fernando, Sojo, Amaia, Sanjurjo, Pablo, Aldámiz‐Echevarría, Luis J.
প্রকাশিত J Clin Lab Anal (2011)

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

অনুযায়ী Urisarri, Adela, Gil, Marta, Mandiá, Natalia, Aldamiz-Echevarría, Luís, Iria, Roca, González-Lamuño, Domingo, Couce, María-Luz
প্রকাশিত Medicine (Baltimore) (2018)

Micronutrient in hyperphenylalaninemia

অনুযায়ী Crujeiras, Vanesa, Aldámiz-Echevarría, Luís, Dalmau, Jaume, Vitoria, Isidro, Andrade, Fernando, Roca, Iria, Leis, Rosaura, Fermandez-Marmiesse, Ana, Couce, María L.
প্রকাশিত Data Brief (2015)

Lipid profile status and other related factors in patients with Hyperphenylalaninaemia

অনুযায়ী Couce, María L., Vitoria, Isidro, Aldámiz-Echevarría, Luís, Fernández-Marmiesse, Ana, Roca, Iria, Llarena, Marta, Sánchez-Pintos, Paula, Leis, Rosaura, Hermida, Alvaro
প্রকাশিত Orphanet J Rare Dis (2016)

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

অনুযায়ী 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.
প্রকাশিত Nutr J (2015)

Carbohydrate status in patients with phenylketonuria

অনুযায়ী 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
প্রকাশিত Orphanet J Rare Dis (2018)

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

অনুযায়ী 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
প্রকাশিত Orphanet J Rare Dis (2018)

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

অনুযায়ী 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
প্রকাশিত Medicine (Baltimore) (2019)

Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation

অনুযায়ী Čechová, Anna, Altassan, Ruqaiah, Borgel, Delphine, Bruneel, Arnaud, Correia, Joana, Girard, Muriel, Harroche, Annie, Kiec-Wilk, Beata, Mohnike, Klaus, Pascreau, Tiffany, Pawliński, Łukasz, Radenkovic, Silvia, Vuillaumier-Barrot, Sandrine, Aldamiz-Echevarria, Luis, Couce, Maria Luz, Martins, Esmeralda G., Quelhas, Dulce, Morava, Eva, de Lonlay, Pascale, Witters, Peter, Honzík, Tomáš
প্রকাশিত J Inherit Metab Dis (2020)

Betaine anhydrous in homocystinuria: results from the RoCH registry

অনুযায়ী 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
প্রকাশিত Orphanet J Rare Dis (2019)

Methionine and S-Adenosylmethionine levels are critical regulators of PP2A activity modulating lipophagy during steatosis

অনুযায়ী Zubiete-Franco, Imanol, García-Rodríguez, Juan Luis, Martínez-Uña, Maite, Martínez-Lopez, Nuria, Woodhoo, Ashwin, Juan, Virginia Gutiérrez-De, Beraza, Naiara, Lage-Medina, Sergio, Andrade, Fernando, Fernandez, Marta Llarena, Aldámiz-Echevarría, Luis, Fernández-Ramos, David, Falcon-Perez, Juan Manuel, Lopitz-Otsoa, Fernando, Fernandez-Tussy, Pablo, Barbier-Torres, Lucía, Luka, Zigmund, Wagner, Conrad, García-Monzón, Carmelo, Lu, Shelly C., Aspichueta, Patricia, Mato, José María, Martínez-Chantar, María Luz, Varela-Rey, Marta
প্রকাশিত J Hepatol (2015)

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

অনুযায়ী 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
প্রকাশিত Orphanet J Rare Dis (2014)

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

অনুযায়ী 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
প্রকাশিত Orphanet J Rare Dis (2014)