Search Results - "Unceta Suárez, María"

Leigh syndrome associated with TRMU gene mutations by 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

“…tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency causes an early onset potentially reversible acute liver failure, so far reported…”
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Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience by 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

“…Classic infantile Pompe disease (IPD) is a rare lysosomal storage disorder characterized by severe hypertrophic cardiomyopathy and profound muscle weakness…”
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Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance by 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

“…Hereditary Fructose Intolerance (HFI) is an autosomal recessive inborn error of metabolism characterised by the deficiency of the hepatic enzyme aldolase B…”
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Vitamin C and folate status in hereditary fructose intolerance by 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

“…Background Hereditary fructose intolerance (HFI) is a rare inborn error of fructose metabolism caused by the deficiency of aldolase B. Since treatment consists…”
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Urine Phenylacetylglutamine Determination in Patients with Hyperphenylalaninemia by 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

“…Phenylketonuria (PKU), an autosomal-recessive inborn error of phenylalanine (Phe) metabolism is the most prevalent disorder of amino acid metabolism…”
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Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL by 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

“…The nuclear gene encodes mitochondrial glutamyl-tRNA synthetase, a member of the class I family of aminoacyl-tRNA synthetases (aaRSs) that plays a crucial role…”
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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 by 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

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Correction: Vitamin C and folate status in hereditary fructose intolerance by 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

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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). by González-Lamuño Leguina, Domingo, Bóveda Fontán, Mª Dolores, Bueno Delgado, María, Gort Mas, Laura, Unceta Suárez, María, Morales Conejo, Montserrat

“…Newborn screening programs for congenital diseases aim to achieve a presymptomatic and early diagnosis of treatable disorders, in order to prevent or…”
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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) by González-Lamuño Leguina, Domingo, Gort Mas, Laura, Morales Conejo, Montserrat, Unceta Suarez, Maria, Bóveda Fontán, María Dolores, Bueno Delgado, M.A

“…Newborn screening programs for congenital diseases aim to achieve a presymptomatic and early diagnosis of treatable disorders, in order to prevent or…”
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