Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation
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, Lonlay, Pascale, Witters, Peter, Honzík, Tomáš
Published in Journal of inherited metabolic disease (01.07.2020)
Published in Journal of inherited metabolic disease (01.07.2020)
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Journal Article
Treatment adherence in tyrosinemia type 1 patients
González-Lamuño, Domingo, Sánchez-Pintos, Paula, Andrade, Fernando, Couce, María L, Aldámiz-Echevarría, Luís
Published in Orphanet journal of rare diseases (03.06.2021)
Published in Orphanet journal of rare diseases (03.06.2021)
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Journal Article
Supplementation for Performance and Health in Patients with Phenylketonuria: An Exercise-Based Approach to Improving Dietary Adherence
González-Lamuño, Domingo, Morencos, Carmenmelina, Arrieta, Francisco J, Venegas, Eva, Vicente-Rodríguez, Germán, Casajús, José Antonio, Couce, Maria Luz, Aldámiz-Echevarría, Luís
Published in Nutrients (25.02.2024)
Published in Nutrients (25.02.2024)
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Journal Article
Effects of Maternal Ω‐3 Supplementation on Fatty Acids and on Visual and Cognitive Development
Hurtado, Jose A., Iznaola, Carmen, Peña, Manuela, Ruíz, Josefa, Peña‐Quintana, Luis, Kajarabille, Naroa, Rodriguez‐Santana, Yessica, Sanjurjo, Pablo, Aldámiz‐Echevarría, Luis, Ochoa, Julio, Lara‐Villoslada, Federico
Published in Journal of pediatric gastroenterology and nutrition (01.10.2015)
Published in Journal of pediatric gastroenterology and nutrition (01.10.2015)
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Journal Article
New CTSA mutation in early infantile galactosialidosis
Aldámiz‐Echevarría, Luis, Couce, M. Luz, Villate, Olatz, Fernández‐Marmiesse, Ana, Piñán, M. Ángeles
Published in Pediatrics international (01.08.2018)
Published in Pediatrics international (01.08.2018)
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Journal Article
Fabry disease in the Spanish population: observational study with detection of 77 patients
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
Published in Orphanet journal of rare diseases (10.04.2018)
Published in Orphanet journal of rare diseases (10.04.2018)
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Journal Article
Oocytes of women who are obese or overweight have lower levels of n-3 polyunsaturated fatty acids compared with oocytes of women with normal weight
Matorras, Roberto, Exposito, Antonia, Ferrando, Marcos, Mendoza, Rosario, Larreategui, Zaloa, Laínz, Lucía, Aranburu, Larraitz, Andrade, Fernando, Aldámiz-Echevarria, Luis, Ruiz-Larrea, Maria Begoña, Ruiz-Sanz, Jose Ignacio
Published in Fertility and sterility (01.01.2020)
Published in Fertility and sterility (01.01.2020)
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Journal Article
Micronutrient in hyperphenylalaninemia
Crujeiras, Vanesa, Aldámiz-Echevarría, Luís, Dalmau, Jaume, Vitoria, Isidro, Andrade, Fernando, Roca, Iria, Leis, Rosaura, Fermandez-Marmiesse, Ana, Couce, María L.
Published in Data in brief (01.09.2015)
Published in Data in brief (01.09.2015)
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Journal Article
Non-alcoholic fatty liver in hereditary fructose intolerance
Aldámiz-Echevarría, Luis, de las Heras, Javier, Couce, María Luz, Alcalde, Carlos, Vitoria, Isidro, Bueno, María, Blasco-Alonso, Javier, Concepción García, María, Ruiz, Mónica, Suárez, Rafael, Andrade, Fernando, Villate, Olatz
Published in Clinical nutrition (Edinburgh, Scotland) (01.02.2020)
Published in Clinical nutrition (Edinburgh, Scotland) (01.02.2020)
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Journal Article
Retrospective study to identify risk factors for chronic kidney disease in children with congenital solitary functioning kidney detected by neonatal renal ultrasound screening
Urisarri, Adela, Gil, Marta, Mandiá, Natalia, Aldamiz-Echevarría, Luís, Iria, Roca, González-Lamuño, Domingo, Couce, María-Luz
Published in Medicine (Baltimore) (01.08.2018)
Published in Medicine (Baltimore) (01.08.2018)
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Journal Article
LC-QTOF-MS-based targeted metabolomics of arginine-creatine metabolic pathway-related compounds in plasma: application to identify potential biomarkers in pediatric chronic kidney disease
Benito, Sandra, Sánchez, Alicia, Unceta, Nora, Andrade, Fernando, Aldámiz-Echevarria, Luis, Goicolea, M. Aránzazu, Barrio, Ramón J
Published in Analytical and bioanalytical chemistry (01.01.2016)
Published in Analytical and bioanalytical chemistry (01.01.2016)
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Journal Article
Lipid profile status and other related factors in patients with Hyperphenylalaninaemia
Couce, María L, Vitoria, Isidro, Aldámiz-Echevarría, Luís, Fernández-Marmiesse, Ana, Roca, Iria, Llarena, Marta, Sánchez-Pintos, Paula, Leis, Rosaura, Hermida, Alvaro
Published in Orphanet journal of rare diseases (09.09.2016)
Published in Orphanet journal of rare diseases (09.09.2016)
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Journal Article
Improvement of newborn screening using a fuzzy inference system
Segundo, Unai, Aldámiz-Echevarría, Luis, López-Cuadrado, Javier, Buenestado, David, Andrade, Fernando, Pérez, Tomás A., Barrena, Raúl, Pérez-Yarza, Eduardo G., Pikatza, Juan M.
Published in Expert systems with applications (15.07.2017)
Published in Expert systems with applications (15.07.2017)
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Journal Article
Betaine anhydrous in homocystinuria: results from the RoCH registry
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
Published in Orphanet journal of rare diseases (14.03.2019)
Published in Orphanet journal of rare diseases (14.03.2019)
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Journal Article
Update on lysosomal acid lipase deficiency: Diagnosis, treatment and patient management
Camarena, Carmen, Aldamiz-Echevarria, Luis J, Polo, Begoña, Barba Romero, Miguel A, García, Inmaculada, Cebolla, Jorge J, Ros, Emilio
Published in Medicina clinica (10.05.2017)
Published in Medicina clinica (10.05.2017)
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Journal Article
Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria
Andrade, Fernando, Villate, Olatz, Couce, María L., Bueno, María A., Alcalde, Carlos, de las Heras, Javier, Ceberio, Leticia, Núñez-Marcos, Sergio, Nambo, Pablo Suárez, Aldámiz-Echevarría, Luis
Published in European journal of pediatrics (01.06.2019)
Published in European journal of pediatrics (01.06.2019)
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Journal Article
Risk factors for developing mineral bone disease in phenylketonuric patients
Mirás, Alicia, Bóveda, M. Dolores, Leis, María R., Mera, Antonio, Aldámiz-Echevarría, Luís, Fernández-Lorenzo, José R., Fraga, José M., Couce, María L.
Published in Molecular genetics and metabolism (01.03.2013)
Published in Molecular genetics and metabolism (01.03.2013)
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Journal Article
Enzyme replacement therapy in Hurler syndrome after failure of hematopoietic transplant
Arranz, Leonor, Aldamiz-Echevarria, Luis
Published in Molecular genetics and metabolism reports (01.06.2015)
Published in Molecular genetics and metabolism reports (01.06.2015)
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Journal Article
New evidence for assessing tetrahydrobiopterin (BH4 ) responsiveness
Bueno, María A, Lage, Sergio, Delgado, Carmen, Andrade, Fernando, Couce, María L, González-Lamuño, Domingo, Pérez, Manuel, Aldámiz-Echevarría, Luis
Published in Metabolism, clinical and experimental (01.12.2012)
Published in Metabolism, clinical and experimental (01.12.2012)
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Journal Article