Leigh syndrome associated with TRMU gene mutations
Sala-Coromina, Júlia, Miguel, Lucía Dougherty-de, de las Heras, Javier, Lasa-Aranzasti, Amaia, Garcia-Arumi, Elena, Carreño, Lidia, Arranz, Jose Antonio, Carnicer, Clara, Unceta-Suárez, María, Sanchez-Montañez, Angel, Gort, Laura, Tort, Frederic, del Toro, Mireia
Published in Molecular genetics and metabolism reports (01.03.2021)
Published in Molecular genetics and metabolism reports (01.03.2021)
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Journal Article
Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience
de las Heras, Javier, Cano, Ainara, Vinuesa, Ana, Montes, Marta, Unceta Suarez, María, Arza, Arantza, Jiménez, Saioa, Vera, Elena, del Hoyo, Marta, Gendive, Miriam, Aguirre, Lizar, Muñoz, Gisela, Fernández, Javier, Ruiz-Espinoza, Cynthia, Fernández, María Ángeles, Galdeano, José Miguel, Rodríguez, Irene, Román, Lourdes, Rodríguez-Serna, Amaya, Loureiro, Begoña, Astigarraga, Itziar
Published in Children (Basel) (09.11.2021)
Published in Children (Basel) (09.11.2021)
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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
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
Urine Phenylacetylglutamine Determination in Patients with Hyperphenylalaninemia
Andrade, Fernando, Cano, Ainara, Unceta Suarez, María, Arza, Arantza, Vinuesa, Ana, Ceberio, Leticia, López-Oslé, Nuria, de Frutos, Gorka, López-Oceja, Raquel, Aznal, Elena, González-Lamuño, Domingo, de las Heras, Javier
Published in Journal of clinical medicine (19.08.2021)
Published in Journal of clinical medicine (19.08.2021)
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Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL
Barbosa-Gouveia, Sofia, González-Vioque, Emiliano, Hermida, Álvaro, Suarez, María Unceta, Martínez-González, María Jesús, Borges, Filipa, Wintjes, Liesbeth, Kappen, Antonia, Rodenburg, Richard, Couce, María-Luz
Published in Genes (02.09.2020)
Published in Genes (02.09.2020)
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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
Correction: 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 (01.11.2023)
Published in European journal of clinical nutrition (01.11.2023)
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Journal Article
The metabolic newborn screening as a healthcare model of the precision medicine. Perspective from the Spanish Association for the Study of Congenital Errors of Metabolism (AECOM).
González-Lamuño Leguina, Domingo, Bóveda Fontán, Mª Dolores, Bueno Delgado, María, Gort Mas, Laura, Unceta Suárez, María, Morales Conejo, Montserrat
Published in Revista espanola de salud publica (26.01.2021)
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Published in Revista espanola de salud publica (26.01.2021)
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El cribado metabólico del recién nacido como modelo asistencial de la medicina de precisión: Perspectiva desde la asociación española para el estudio de los errores congénitos del metabolismo (AECOM)
González-Lamuño Leguina, Domingo, Gort Mas, Laura, Morales Conejo, Montserrat, Unceta Suarez, Maria, Bóveda Fontán, María Dolores, Bueno Delgado, M.A
Published in Revista española de salud pública (2021)
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Published in Revista española de salud pública (2021)
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