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Perioperative management of children with urea cycle disorders
Del Río, Cristina, Martín‐Hernández, Elena, Ruiz, Alicia, Quijada‐Fraile, Pilar, Rubio, Paloma
Published in Pediatric anesthesia (01.07.2020)
Published in Pediatric anesthesia (01.07.2020)
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Journal Article
Nutrition With Skimmed Breast Milk in an Infant With Long Chain 3‐Hydroxyacyl‐coA Dehydrogenase Deficiency
Alonso‐Diaz, Clara, Escuder‐Vieco, Diana, Quijada‐Fraile, Pilar, Barrio‐Carreras, Delia, Pérez‐Mohand, Patricia, Martín‐Hernández, Elena, Pallas‐Alonso, Carmen Rosa, García‐Lara, Nadia Raquel
Published in JIMD reports (01.05.2025)
Published in JIMD reports (01.05.2025)
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Journal Article
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals
Cotrina-Vinagre, Francisco Javier, Rodríguez-García, María Elena, del Pozo-Filíu, Lucía, Hernández-Laín, Aurelio, Arteche-López, Ana, Morte, Beatriz, Sevilla, Marta, Pérez-Jurado, Luis Alberto, Quijada-Fraile, Pilar, Camacho, Ana, Martínez-Azorín, Francisco
Published in Journal of human genetics (01.05.2024)
Published in Journal of human genetics (01.05.2024)
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Journal Article
Expanding the genetic and phenotypic spectrum of Baker–Gordon syndrome: a new de novo SYT1 variant
Cotrina-Vinagre, Francisco Javier, Rodríguez-García, María Elena, Del Pozo-Filíu, Lucía, Quijada-Fraile, Pilar, Martínez-Azorín, Francisco
Published in Journal of genetics (05.07.2024)
Published in Journal of genetics (05.07.2024)
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Journal Article
A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2
Rodríguez-García, María Elena, Cotrina-Vinagre, Francisco Javier, Olson, Alexandra N., Sánchez-Calvin, María Teresa, de Aragón, Ana Martínez, de Las Heras, Rogelio Simón, Dinman, Jonathan D., de Vries, Bert B. A., Nabais Sá, Maria João, Quijada-Fraile, Pilar, Martínez-Azorín, Francisco
Published in Journal of human genetics (01.08.2023)
Published in Journal of human genetics (01.08.2023)
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Journal Article
Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program
Navarrete, Rosa, Leal, Fátima, Vega, Ana I., Morais-López, Ana, Garcia-Silva, María Teresa, Martín-Hernández, Elena, Quijada-Fraile, Pilar, Bergua, Ana, Vives, Inmaculada, García-Jiménez, Inmaculada, Yahyaoui, Raquel, Pedrón-Giner, Consuelo, Belanger-Quintana, Amaya, Stanescu, Sinziana, Cañedo, Elvira, García-Campos, Oscar, Bueno-Delgado, María, Delgado-Pecellín, Carmen, Vitoria, Isidro, Rausell, María Dolores, Balmaseda, Elena, Couce, Mari Luz, Desviat, Lourdes R., Merinero, Begoña, Rodríguez-Pombo, Pilar, Ugarte, Magdalena, Pérez-Cerdá, Celia, Pérez, Belén
Published in European journal of human genetics : EJHG (01.04.2019)
Published in European journal of human genetics : EJHG (01.04.2019)
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Journal Article
Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience
Quijada-Fraile, Pilar, Arranz Canales, Elena, Martín-Hernández, Elena, Ballesta-Martínez, María Juliana, Guillén-Navarro, Encarna, Pintos-Morell, Guillem, Moltó-Abad, Marc, Moreno-Martínez, David, García Morillo, Salvador, Blasco-Alonso, Javier, Couce, María Luz, Gil Sánchez, Ricardo, Cortès-Saladelafont, Elisenda, López Rodríguez, Mónica A., García-Silva, María Teresa, Morales Conejo, Montserrat
Published in Orphanet journal of rare diseases (03.11.2021)
Published in Orphanet journal of rare diseases (03.11.2021)
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Journal Article
Whole-Exome Sequencing Identifies a Variant of the Mitochondrial MT-ND1 Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox-Gastaut Syndrome
Delmiro, Aitor, Rivera, Henry, García-Silva, María Teresa, García-Consuegra, Inés, Martín-Hernández, Elena, Quijada-Fraile, Pilar, de Las Heras, Rogelio Simón, Moreno-Izquierdo, Ana, Martín, Miguel Ángel, Arenas, Joaquín, Martínez-Azorín, Francisco
Published in Human mutation (01.12.2013)
Published in Human mutation (01.12.2013)
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Journal Article
Chemotherapy in a Breast Cancer Patient Heterozygous Carrier of Ornithine Transcarbamylase Deficiency
Palka-Kotlowska, Magda, Cabezón-Gutiérrez, Luis, Custodio-Cabello, Sara, Quijada-Fraile, PIlar, Chumillas-Calzada, Silvia
Published in Curēus (Palo Alto, CA) (26.05.2020)
Published in Curēus (Palo Alto, CA) (26.05.2020)
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Journal Article
Tratamiento dietético con fructosa en una niña de 5 años con acidosis D-láctica recurrente
Travieso Suárez, Lourdes, Quijada Fraile, Pilar, Pedrón Giner, Consuelo
Published in Nutrición hospitalaria : organo oficial de la Sociedad Española de Nutrición Parenteral y Enteral (01.04.2018)
Published in Nutrición hospitalaria : organo oficial de la Sociedad Española de Nutrición Parenteral y Enteral (01.04.2018)
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Journal Article
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
Hochberg, Irit, Demain, Leigh A.M., Richer, Julie, Thompson, Kyle, Urquhart, Jill E., Rea, Alessandro, Pagarkar, Waheeda, Rodríguez-Palmero, Agustí, Schlüter, Agatha, Verdura, Edgard, Pujol, Aurora, Quijada-Fraile, Pilar, Amberger, Albert, Deutschmann, Andrea J., Demetz, Sandra, Gillespie, Meredith, Belyantseva, Inna A., McMillan, Hugh J., Barzik, Melanie, Beaman, Glenda M., Motha, Reeya, Ng, Kah Ying, O’Sullivan, James, Williams, Simon G., Bhaskar, Sanjeev S., Lawrence, Isabella R., Jenkinson, Emma M., Zambonin, Jessica L., Blumenfeld, Zeev, Yalonetsky, Sergey, Oerum, Stephanie, Rossmanith, Walter, Yue, Wyatt W., Zschocke, Johannes, Munro, Kevin J., Battersby, Brendan J., Friedman, Thomas B., Taylor, Robert W., O’Keefe, Raymond T., Newman, William G.
Published in American journal of human genetics (04.11.2021)
Published in American journal of human genetics (04.11.2021)
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Journal Article
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism
Soriano-Sexto, Alejandro, Gallego, Diana, Leal, Fátima, Castejón-Fernández, Natalia, Navarrete, Rosa, Alcaide, Patricia, Couce, María L., Martín-Hernández, Elena, Quijada-Fraile, Pilar, Peña-Quintana, Luis, Yahyaoui, Raquel, Correcher, Patricia, Ugarte, Magdalena, Rodríguez-Pombo, Pilar, Pérez, Belén
Published in International journal of molecular sciences (01.11.2022)
Published in International journal of molecular sciences (01.11.2022)
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Journal Article
Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
Kožich, Viktor, Sokolová, Jitka, Morris, Andrew A. M., Pavlíková, Markéta, Gleich, Florian, Kölker, Stefan, Krijt, Jakub, Dionisi‐Vici, Carlo, Baumgartner, Matthias R., Blom, Henk J., Huemer, Martina, Aldámiz‐Echevarría, Luis, Arantes, Rodrigo Rezende, Arrieta, Francisco, Blasco‐Alonso, Javier, Brouwers, Martijn, Brunner‐Krainz, Michaela, Bueno, María, Peláez, Rosa Burgos, Cano, Aline, Couce, María‐Luz, Crushell, Ellen, Ficicioglu, Can, Forny, Patrick, García Jiménez, María Concepción, Gaspar, Ana, González‐Lamuño Leguina, Domingo, Chapman, Kimberly A., Chien, Yin‐Hsiu, Janssen, Mirian C.H., Ješina, Pavel, Lachmann, Robin, Lavigne, Christian, Lund, Allan M., Lüsebrink, Natalia, Maillot, Francois, Martins, Ana Maria, Olivas, Silvia Meavilla, Mention, Karine, Mochel, Fanny, Monavari, Ahmad, Moreira, Sónia, Moreno, Carolina Araujo, Muačević‐Katanec, Diana, Mundy, Helen, Murphy, Elaine, Olivieri, Giorgia, Paquay, Stéphanie, Pedrón‐Giner, Consuelo, Quintana, Luís Peña, Porras‐Hurtado, Gloria L., Fraile, Pilar Quijada, Redonnet‐Vernhet, Isabelle, Rennings, Alexander J.M., 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 M., Sykut‐Cegielska, Jolanta, Terry, Allyson, Tran, Christel, Miñana, Isidro Vitoria, Vives‐Piñera, Inmaculada, Williams, Monique, Zeman, Jiří, Zielonka, Matthias
Published in Journal of inherited metabolic disease (01.05.2021)
Published in Journal of inherited metabolic disease (01.05.2021)
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Journal Article
Correction: A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2
Rodríguez-García, María Elena, Cotrina-Vinagre, Francisco Javier, Olson, Alexandra N., Sánchez-Calvin, María Teresa, de Aragón, Ana Martínez, de Las Heras, Rogelio Simón, Dinman, Jonathan D., de Vries, Bert B. A., Nabais Sá, Maria João, Quijada-Fraile, Pilar, Martínez-Azorín, Francisco
Published in Journal of human genetics (01.08.2023)
Published in Journal of human genetics (01.08.2023)
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Journal Article
Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency
Yverneau, Mathilde, Leroux, Stéphanie, Imbard, Apolline, Gleich, Florian, Arion, Alina, Moreau, Caroline, Nassogne, Marie‐Cécile, Szymanowski, Marie, Tardieu, Marine, Touati, Guy, Bueno, María, Chapman, Kimberly A., Chien, Yin‐Hsiu, Huemer, Martina, Ješina, Pavel, Janssen, Mirian C. H., Kölker, Stefan, Kožich, Viktor, Lavigne, Christian, Lund, Allan Meldgaard, Mochel, Fanny, Morris, Andrew, Pons, Mónica Ruiz, Porras‐Hurtado, Gloria Liliana, Benoist, Jean‐François, Damaj, Léna, Schiff, Manuel, Martins, Ana Maria, Alonso, Javier Blasco, Chabrol, Brigitte, Crushell, Ellen, Dionisi‐Vici, Carlo, Grünewald, Stephanie, Mention, Karine, Mundy, Helen, Murphy, Elaine, Fraile, Pilar Quijada, Ruiz, Carlos José, Ruiz Gómez, Maria Ángeles, Santra, Saikat, Scherer, Thomas, Stainforth, Collette, Stepien, Karolina M., Sunder‐Plassmann, Gere, Van Hove, Johan L. K.
Published in Journal of inherited metabolic disease (01.07.2022)
Published in Journal of inherited metabolic disease (01.07.2022)
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Journal Article
Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients
Bélanger-Quintana, Amaya, Arrieta Blanco, Francisco, Barrio-Carreras, Delia, Bergua Martínez, Ana, Cañedo Villarroya, Elvira, García-Silva, María Teresa, Lama More, Rosa, Martín-Hernández, Elena, López, Ana Moráis, Morales-Conejo, Montserrat, Pedrón-Giner, Consuelo, Quijada-Fraile, Pilar, Stanescu, Sinziana, Casanova, Mercedes Martínez-Pardo
Published in Nutrients (02.07.2022)
Published in Nutrients (02.07.2022)
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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
Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns
Martín-Rivada, Álvaro, Cambra Conejero, Ana, Martín-Hernández, Elena, Moráis López, Ana, Bélanger-Quintana, Amaya, Cañedo Villarroya, Elvira, Quijada-Fraile, Pilar, Bellusci, Marcelo, Chumillas Calzada, Silvia, Bergua Martínez, Ana, Stanescu, Sinziana, Martínez-Pardo Casanova, Mercedes, Ruíz-Sala, Pedro, Ugarte, Magdalena, Pérez González, Belén, Pedrón-Giner, Consuelo
Published in Journal of Pediatric Endocrinology & Metabolism (26.10.2022)
Published in Journal of Pediatric Endocrinology & Metabolism (26.10.2022)
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Journal Article
A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single‐center study and the generation of www.emergencyprotocol.net
Rossi, Alessandro, Hoogeveen, Irene J., Lubout, Charlotte M. A., Boer, Foekje, Fokkert‐Wilts, Marieke J., Rodenburg, Iris L., Dam, Esther, Grünert, Sarah C., Martinelli, Diego, Scarpa, Maurizio, Dekker, Hanka, Boekhorst, Sebastiaan T., Spronsen, Francjan J., Derks, Terry G. J.
Published in Journal of inherited metabolic disease (01.09.2021)
Published in Journal of inherited metabolic disease (01.09.2021)
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Journal Article