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Hyperhomocysteinemia in Adult Patients: A Treatable Metabolic Condition
González-Lamuño, Domingo, Arrieta-Blanco, Francisco Jesús, Fuentes, Elena Dios, Forga-Visa, María Teresa, Morales-Conejo, Monstserrat, Peña-Quintana, Luis, Vitoria-Miñana, Isidro
Published in Nutrients (30.12.2023)
Published in Nutrients (30.12.2023)
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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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Journal Article
Study of Adult and Pediatric Spanish Patients with Cryptogenic Splenomegaly and Splenectomy
Morado Arias, Marta, Villarrubia Espinosa, Jesús, Vitoria Miñana, Isidro, Calderón Sandubete, Enrique, Quintero, Víctor, Torralba-Cabeza, Miguel Ángel
Published in Diseases (30.03.2025)
Published in Diseases (30.03.2025)
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Journal Article
Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project
Serrano-Gonzalo, Irene, de Frutos, Laura López, Lahoz-Gil, Carlos, Delgado-Mateos, Francisco, Fernández-Galán, María Ángeles, Morales-Conejo, Montserrat, Calle-Gordo, María Victoria, Ibarretxe-Gerediaga, Daiana, Madinaveitia-Ochoa, Andrés, Albarracin-Arraigosa, Antonio, Balanzat-Muñoz, José, Correcher-Medina, Patricia, García-Frade, Luis Javier, Hernández-Rivas, Jesús María, Labbadia, Francesca, López-Dupla, Jesus Miguel, Lozano-Almela, María Luisa, Mora-Casterá, Elvira, Noya-Pereira, María Soledad, Ruíz-Guinaldo, María Ángeles, del Mar Tormo-Díaz, María, Vitoria-Miñana, Isidro, Arévalo-Vargas, Isidro, Andrade-Campos, Marcio, Giraldo, Pilar
Published in Orphanet journal of rare diseases (15.12.2023)
Published in Orphanet journal of rare diseases (15.12.2023)
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Journal Article
Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain
Martín-Hernández, Elena, Quijada-Fraile, Pilar, Correcher, Patricia, Meavilla, Silvia, Sánchez-Pintos, Paula, de las Heras Montero, Javier, Blasco-Alonso, Javier, Dougherty, Lucy, Marquez, Ana, Peña-Quintana, Luis, Cañedo, Elvira, García-Jimenez, María Concepción, Moreno Lozano, Pedro Juan, Murray Hurtado, Mercedes, Camprodon Gómez, María, Barrio-Carreras, Delia, de los Santos, Mariela, del Toro, Mireia, Couce, María L., Vitoria Miñana, Isidro, Morales Conejo, Montserrat, Bellusci, Marcello
Published in Journal of clinical medicine (28.08.2022)
Published in Journal of clinical medicine (28.08.2022)
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Journal Article
Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance
Cano, Ainara, Alcalde, Carlos, Belanger-Quintana, Amaya, Cañedo-Villarroya, Elvira, Ceberio, Leticia, Chumillas-Calzada, Silvia, Correcher, Patricia, Couce, María Luz, García-Arenas, Dolores, Gómez, Igor, Hernández, Tomás, Izquierdo-García, Elsa, Martínez Chicano, Dámaris, Morales, Montserrat, Pedrón-Giner, Consuelo, Petrina Jáuregui, Estrella, Peña-Quintana, Luis, Sánchez-Pintos, Paula, Serrano-Nieto, Juliana, Unceta Suarez, María, Vitoria Miñana, Isidro, de las Heras, Javier
Published in Journal of clinical medicine (30.06.2021)
Published in Journal of clinical medicine (30.06.2021)
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Journal Article
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
Breastfeeding and Inborn Errors of Amino Acid and Protein Metabolism: A Spreadsheet to Calculate Optimal Intake of Human Milk and Disease-Specific Formulas
Vitoria-Miñana, Isidro, Couce, María-Luz, González-Lamuño, Domingo, García-Peris, Mónica, Correcher-Medina, Patricia
Published in Nutrients (13.08.2023)
Published in Nutrients (13.08.2023)
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Journal Article
Audiological findings in children with mucopolysaccharidoses type i-iv
Vargas-Gamarra, María F, de Paula-Vernetta, Carlos, Vitoria Miñana, Isidro, Ibañez-Alcañiz, Isabel, Cavallé-Garrido, Laura, Alamar-Velazquez, Agustín
Published in Acta otorrinolaringológica española (English) (01.09.2017)
Published in Acta otorrinolaringológica española (English) (01.09.2017)
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Journal Article
Adaptación transcultural al español y validez de contenido de 3 escalas de riesgo nutricional
Balaguer López, Evelin, García-Molina, Pablo, Núñez, Francisco, Crehuá-Gaudiza, Elena, Montal Navarro, María Ángeles, Pedrón Giner, Consuelo, Vitoria Miñana, Isidro, Jovaní Casano, Carmen, Galera Martínez, Rafael, Gómez-López, Lilian, Rodríguez Martínez, Gerardo, Martínez-Costa, Cecilia
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.07.2022)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.07.2022)
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Journal Article
Vitamin C and folate status in hereditary fructose intolerance
Cano, Ainara, Alcalde, Carlos, Belanger-Quintana, Amaya, Cañedo-Villarroya, Elvira, Ceberio, Leticia, Chumillas-Calzada, Silvia, Correcher, Patricia, Couce, María Luz, García-Arenas, Dolores, Gómez, Igor, Hernández, Tomás, Izquierdo-García, Elsa, Chicano, Dámaris Martínez, Morales, Montserrat, Pedrón-Giner, Consuelo, Jáuregui, Estrella Petrina, Peña-Quintana, Luis, Sánchez-Pintos, Paula, Serrano-Nieto, Juliana, Suarez, María Unceta, Miñana, Isidro Vitoria, de las Heras, Javier
Published in European journal of clinical nutrition (01.12.2022)
Published in European journal of clinical nutrition (01.12.2022)
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Journal Article
FRI-153 High prevalence of steatotic liver disease and systemic inflammation in hereditary fructose intolerance (HFI) patients independent of age, BMI and the presence of metabolic syndrome
Delgado, Teresa Cardoso, Cano, Ainara, Mercado-Gómez, Maria, Buque, Xabier, Alonso, Cristina, Serrano-Macia, Marina, Alcalde, Carlos, Belanger-Quintana, Amaya, Cañedo-Villarroya, Elvira, Hualde, Leticia Ceberia, Chumillas-Calzada, Silvia, Correcher, Patricia, García-Arenas, Dolores, Gómez, Igor, Hernández, Tomáz, Izquierdo-García, Elsa, Chicano, Dámaris Martínez, Morales, Montserrat, Pedrón-Giner, Consuelo, Jáuregui, Estrella Petrina, Peña, Luis, Sánchez-Pintos, Paula, Serrano-Nieto, Juliana, Suárez, Maria Unceta, Miñana, Isidro Vitoria, Larena, Jose Alejandro, Couce, María Luz, Martínez-Chantar, María Luz, Aspichueta, Patricia, de las Heras Montero, Javier
Published in Journal of hepatology (01.06.2024)
Published in Journal of hepatology (01.06.2024)
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Journal Article