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Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases
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
Published in Orphanet journal of rare diseases (30.11.2014)
Published in Orphanet journal of rare diseases (30.11.2014)
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Journal Article
Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders
Andrade, Fernando, Vitoria, Isidro, Martín Hernández, Elena, Pintos-Morell, Guillem, Correcher, Patricia, Puig-Piña, Rocío, Quijada-Fraile, Pilar, Peña-Quintana, Luis, Marquez, Ana Mª, Villate, Olatz, García Silva, Mª Teresa, de las Heras, Javier, Ceberio, Leticia, Rodrigues, Esmeralda, Almeida Campos, Teresa, Yahyaoui, Raquel, Blasco, Javier, Vives-Piñera, Inmaculada, Gil, David, del Toro, Mireia, Ruiz-Pons, Mónica, Cañedo, Elvira, Barba Romero, Miguel Angel, García-Jiménez, Mª Concepción, Aldámiz-Echevarría, Luis
Published in Journal of pharmaceutical and biomedical analysis (30.11.2019)
Published in Journal of pharmaceutical and biomedical analysis (30.11.2019)
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Journal Article
Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: data from the E‐HOD registry
Huemer, Martina, Diodato, Daria, Martinelli, Diego, Olivieri, Giorgia, Blom, Henk, Gleich, Florian, Kölker, Stefan, Kožich, Viktor, Morris, Andrew A., Seifert, Burkhardt, Froese, D. Sean, Baumgartner, Matthias R., Dionisi‐Vici, Carlo, Martin, Carlos Alcalde, Baethmann, Martina, Ballhausen, Diana, Blasco‐Alonso, Javier, Boy, Nikolas, Bueno, Maria, Burgos Peláez, Rosa, Cerone, Roberto, Chabrol, Brigitte, Chapman, Kimberly A., Couce, Maria Luz, Crushell, Ellen, Dalmau Serra, Jaime, Diogo, Luisa, Ficicioglu, Can, García Jimenez, Maria Concepcion, García Silva, Maria Teresa, Gaspar, Ana, Gautschi, Matthias, González‐Lamuño, Domingo, Gouveia, Sofia, Grünewald, Stephanie, Hendriksz, Chris, Janssen, Mirian C. H., Jesina, Pavel, Koch, Johannes, Konstantopoulou, Vassiliki, Lavigne, Christian, Lund, Allan M., Martins, Esmeralda G., Meavilla Olivas, Silvia, Mention, Karine, Mochel, Fanny, Mundy, Helen, Murphy, Elaine, Paquay, Stephanie, Pedrón‐Giner, Consuelo, Ruiz Gómez, Maria Angeles, Santra, Saikat, Schiff, Manuel, Schwartz, Ida Vanessa, Scholl‐Bürgi, Sabine, Servais, Aude, Skouma, Anastasia, Tran, Christel, Vives Piñera, Inmaculada, Walter, John, Weisfeld‐Adams, James
Published in Journal of inherited metabolic disease (01.03.2019)
Published in Journal of inherited metabolic disease (01.03.2019)
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Journal Article
Cystathionine β‐Synthase Deficiency in the E‐HOD Registry—Part II: Dietary and Pharmacological Treatment
Morris, Andrew A. M., Sokolová, Jitka, Pavlíková, Markéta, Gleich, Florian, Kölker, Stefan, Dionisi‐Vici, Carlo, Baumgartner, Matthias R., Hannibal, Luciana, Blom, Henk J., Huemer, Martina, Kožich, Viktor, Arantes, Rodrigo R., Blanco, Francisco Arrieta, Baghdasaryan, Anna, Ballhausen, Diana, Blasco‐Alonso, Javier, Brouwers, Martijn, Bueno, María, Burgos, Rosa, Villarroya, Elvira Cañedo, Cano, Aline, Couce, María‐Luz, Crushell, Ellen, Heras, Javier De Las, Ficicioglu, Can, Jiménez, María Concepción García, Gaspar, Ana, Leguina, Domingo González‐Lamuño, Chapman, Kimberly A., Chien, Yin‐Hsiu, Janssen, Mirian C. H., Ješina, Pavel, Kaufman, Christina, Lachmann, Robin, Lavigne, Christian, Lund, Allan M., Lüsebrink, Natalia, Maillot, Francois, Martins, Ana Maria, Olivas, Silvia Meavilla, Mention, Karine, Miñana, Isidro Vitoria, Mochel, Fanny, Monavari, Ahmad, Moreira, Sónia, Moreno, Carolina Araujo, Mundy, Helen, Murphy, Elaine, Olivieri, Giorgia, Paquay, Stéphanie, Peña‐Quintana, Luís, Ramadža, Danijela Petković, Porras‐Hurtado, Gloria Liliana, Quijada‐Fraile, Pilar, Redonnet‐Vernhet, Isabelle, Rennings, Alexander, Pons, Mònica Ruiz, Santra, Saikat, Servais, Aude, Schiaffino, Maria Cristina, Schiff, Manuel, Schwahn, Bernd C., Schwartz, Ida V. D., Sremba, Leighann J., Stainforth, Collette, Stepien, Karolina Maria, Sykut‐Cegielska, Jolanta, Terry, Allyson, Piñera, Inmaculada Vives, Williams, Monique, Zeman, Jiří, Zielonka, Matthias
Published in Journal of inherited metabolic disease (01.01.2025)
Published in Journal of inherited metabolic disease (01.01.2025)
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Journal Article
Guía de práctica clínica SENPE/SEGHNP/SEFH sobre nutrición parenteral pediátrica
Pedrón Giner, Consuelo, Cuervas-Mons Vendrell, Margarita, Galera Martínez, Rafael, Gómez López, Lilianne, Gomis Muñoz, Pilar, Irastorza Terradillos, Iñaki, Martínez Costa, Cecilia, Moreno Villares, José Manuel, Pérez-Portabella Maristany, Cleofé, Pozas del Río, M.ª Teresa, Redecillas Ferreiro, Susana E., Prieto Bozano, Gerardo, Grupo de Estandarización de la SENPE, SENPE
Published in Nutrición hospitalaria : organo oficial de la Sociedad Española de Nutrición Parenteral y Enteral (05.06.2017)
Published in Nutrición hospitalaria : organo oficial de la Sociedad Española de Nutrición Parenteral y Enteral (05.06.2017)
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Journal Article
Estudio descriptivo de neurocisticercosis en un hospital terciario
Más Sesé, Gemma, Vives Piñera, Inmaculada, Fernández Barreiro, Andrés, Martínez Lage, Juan Francisco, Martínez Salcedo, Eduardo, Alarcón Martínez, Helena, Pérez Fernández, Virginia, Domingo Jiménez, Rosario, Casas Fernández, Carlos
Published in Revista de neurologiá (2008)
Published in Revista de neurologiá (2008)
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Journal Article