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Lado-Abeal, Joaquin, Martinez-Sánchez, Noelia, Cocho, Jose Angel, Martín-Pastor, Manuel, Castro-Piedras, Isabel, Couce-Pico, M. Luz, Saha, Asish K., López, Miguel
Published in Metabolomics (01.10.2018)
Published in Metabolomics (01.10.2018)
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Galactokinase deficiency: lessons from the GalNet registry
Rubio-Gozalbo, M. Estela, Derks, Britt, Das, Anibh Martin, Meyer, Uta, Möslinger, Dorothea, Couce, M. Luz, Empain, Aurélie, Ficicioglu, Can, Juliá Palacios, Natalia, De Los Santos De Pelegrin, Mariela M., Rivera, Isabel A., Scholl-Bürgi, Sabine, Bosch, Annet M., Cassiman, David, Demirbas, Didem, Gautschi, Matthias, Knerr, Ina, Labrune, Philippe, Skouma, Anastasia, Verloo, Patrick, Wortmann, Saskia B., Treacy, Eileen P., Timson, David J., Berry, Gerard T.
Published in Genetics in medicine (01.01.2021)
Published in Genetics in medicine (01.01.2021)
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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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Galactose epimerase deficiency: lessons from the GalNet registry
Derks, Britt, Demirbas, Didem, Arantes, Rodrigo R., Banford, Samantha, Burlina, Alberto B., Cabrera, Analía, Chiesa, Ana, Couce, M. Luz, Dionisi-Vici, Carlo, Gautschi, Matthias, Grünewald, Stephanie, Morava, Eva, Möslinger, Dorothea, Scholl-Bürgi, Sabine, Skouma, Anastasia, Stepien, Karolina M., Timson, David J., Berry, Gerard T., Rubio-Gozalbo, M. Estela
Published in Orphanet journal of rare diseases (02.09.2022)
Published in Orphanet journal of rare diseases (02.09.2022)
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Development of electrospray ionization tandem mass spectrometry methods for the study of a high number of urine markers of inborn errors of metabolism
Rebollido-Fernandez, M. Maira, Castiñeiras, Daisy E., Dolores Bóveda, M., Luz Couce, M., Cocho, José A., Fraga, Jose M.
Published in Rapid communications in mass spectrometry (30.09.2012)
Published in Rapid communications in mass spectrometry (30.09.2012)
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Transition process from paediatric to adult care in patients with inborn errors of metabolism. Consensus statement
Pérez-López, Jordi, Ceberio-Hualde, Leticia, García Morillo, José Salvador, Grau-Junyent, Josep M, Hermida Ameijeiras, Álvaro, López-Rodríguez, Mónica, Morales-Conejo, Montserrat, Nava Mateos, Juan José, Aldámiz Echevarri Azuara, Luis José, Campistol, Jaume, Couce, M Luz, García-Silva, María Teresa, González Gutiérrez-Solana, Luis, Del Toro, Mireia
Published in Medicina clinica (02.12.2016)
Published in Medicina clinica (02.12.2016)
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Journal Article
Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain
Medrano, Celia, Vega, Ana, Navarrete, Rosa, Ecay, M. Jesús, Calvo, Rocío, Pascual, Samuel Ignacio, Ruiz‐Pons, Mónica, Toledo, Laura, García‐Jiménez, Inmaculada, Arroyo, Ignacio, Campo, Andrea, Couce, M. Luz, Domingo‐Jiménez, M. Rosario, García‐Silva, M. Teresa, González‐Gutiérrez‐Solana, Luis, Hierro, Loreto, Martín‐Hernández, Elena, Martínez‐Pardo, Mercedes, Roldán, Susana, Tomás, Miguel, Cabrera, Jose C., Mártinez‐Bugallo, Francisco, Martín‐Viota, Lucía, Vitoria‐Miñana, Isidro, Lefeber, Dirk J., Girós, M. Luisa, Serrano Gimare, Mercedes, Ugarte, Magdalena, Pérez, Belén, Pérez‐Cerdá, Celia
Published in Clinical genetics (01.05.2019)
Published in Clinical genetics (01.05.2019)
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Recommendations of the Spanish Society of Neonatology for the prevention of severe respiratory syncytial virus infections with nirsevimab, for the 2024–2025 season
Sánchez Luna, Manuel, Couce Pico, M. Luz, Fernández Colomer, Belén
Published in Anales de Pediatría (25.10.2024)
Published in Anales de Pediatría (25.10.2024)
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Congenital hypothyroidism with neurological and respiratory alterations: a case detected using a variable diagnostic threshold for TSH
Barreiro, Jesús, Alonso-Fernández, Jóse Ramón, Castro-Feijoo, Lidia, Colón, Cristóbal, Cabanas, Paloma, Heredia, Claudia, Castaño, Luis Antonio, Gómez-Lado, Carmen, Couce, M Luz, Pombo, Manuel
Published in Journal of clinical research in pediatric endocrinology (2011)
Published in Journal of clinical research in pediatric endocrinology (2011)
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Epidemiological study of the metabolic diseases with homocystinuria in Spain
García-Jiménez, M C, Baldellou, A, García-Silva, M T, Dalmau-Serra, J, García-Cazorla, A, Gómez-López, L, Giner, C Pedrón, Luengo, O Alonso, Peña Quintana, L, Couce, M Luz, Martínez-Pardo, M, Lambruschini, N
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.03.2012)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.03.2012)
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Journal Article
Estudio epidemiológico de las enfermedades metabólicas con homocistinuria en España
García-Jiménez, M.C, Baldellou, A, García-Silva, M.T, Dalmau-Serra, J, García-Cazorla, A, Gómez-López, L, Pedrón Giner, C, Alonso Luengo, O, Peña Quintana, L, Luz Couce, M, Martínez-Pardo, M, Lambruschini, N
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.03.2012)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.03.2012)
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Glutaric aciduria type I: Outcome of patients with early- versus late-diagnosis
Couce, M Luz, López-Suárez, Olalla, Bóveda, M Dolores, Castiñeiras, Daisy E, Cocho, José A, García-Villoria, Judith, Castro-Gago, Manuel, Fraga, José M, Ribes, Antonia
Published in European journal of paediatric neurology (01.07.2013)
Published in European journal of paediatric neurology (01.07.2013)
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Vertically transmitted cytomegalovirus infection in newborn preterm infants
Balcells, Carla, Botet, Francesc, Gayete, Sònia, Marcos, M Ángeles, Dorronsoro, Izaskun, de Alba, Concepción, Figueras-Aloy, Josep, Castrillo Study Group
Published in Journal of perinatal medicine (01.07.2016)
Published in Journal of perinatal medicine (01.07.2016)
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Recommendations of the Spanish Society of Neonatology for the prevention of severe respiratory syncytial virus infections with nirsevimab, for the 2023–2024 season
Sánchez Luna, Manuel, Fernández Colomer, Belén, Couce Pico, M. Luz
Published in Anales de Pediatría (01.10.2023)
Published in Anales de Pediatría (01.10.2023)
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Recomendaciones de la Sociedad Española de Neonatología para la profilaxis frente a las infecciones graves por virus respiratorio sincitial con nirsevimab, para la estación 2024-2025
Sánchez Luna, Manuel, Couce Pico, M. Luz, Fernández Colomer, Belén
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.11.2024)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.11.2024)
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Journal Article
Recomendaciones de la Sociedad Española de Neonatología para la profilaxis frente a las infecciones graves por virus respiratorio sincitial con nirsevimab, para la estación 2023-2024
Sánchez Luna, Manuel, Fernández Colomer, Belén, Couce Pico, M. Luz
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.10.2023)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.10.2023)
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Journal Article
Transition process from paediatric to adult care in patients with inborn errors of metabolism. Consensus statement
Pérez-López, Jordi, Ceberio-Hualde, Leticia, García Morillo, José Salvador, Grau-Junyent, Josep M., Hermida Ameijeiras, Álvaro, López-Rodríguez, Mónica, Morales-Conejo, Montserrat, Nava Mateos, Juan José, Aldámiz Echevarri Azuara, Luis José, Campistol, Jaume, Couce, M. Luz, García-Silva, María Teresa, González Gutiérrez-Solana, Luis, del Toro, Mireia
Published in Medicina clínica (English ed.) (02.12.2016)
Published in Medicina clínica (English ed.) (02.12.2016)
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Knee Dislocation in the Delivery Room
de Castro López, María José, MD, Iglesias Deus, Alicia, MD, Rodriguez Vidal, Adriana, MD, López Suárez, Olalla, MD, Pérez Muñuzuri, Alejandro, MD, PhD, Couce Pico, Maria Luz, MD, PhD
Published in The Journal of pediatrics (01.10.2014)
Published in The Journal of pediatrics (01.10.2014)
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