Resultats de la cerca - María L. Couce

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  1. 1
    NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment

    NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment per Ana Fernández‐Marmiesse, Sofía Gouveia, María L. Couce

    Publicat 2017
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  2. 2
    Gene Therapy for Neuronopathic Mucopolysaccharidoses: State of the Art

    Gene Therapy for Neuronopathic Mucopolysaccharidoses: State of the Art per María José de Castro, Mireia del Toro, Roberto Giugliani, María L. Couce

    Publicat 2021
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  3. 3
    Effects of Prebiotic and Probiotic Supplementation on Lactase Deficiency and Lactose Intolerance: A Systematic Review of Controlled Trials

    Effects of Prebiotic and Probiotic Supplementation on Lactase Deficiency and Lactose Intolerance: A Systematic Review of Controlled Trials per Rosaura Leis, María-José de Castro, Carmela de Lamas, Rosaura Picáns, María L. Couce

    Publicat 2020
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  4. 4
    Effects of Dairy Product Consumption on Height and Bone Mineral Content in Children: A Systematic Review of Controlled Trials

    Effects of Dairy Product Consumption on Height and Bone Mineral Content in Children: A Systematic Review of Controlled Trials per Carmela de Lamas, María José de Castro, Mercedes Gil‐Campos, Ángel Gil, María L. Couce, Rosaura Leis

    Publicat 2018
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  5. 5
    Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management

    Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management per Kazuki Sawamoto, J. Víctor Álvarez, Matthew Piechnik, Francisco J. Otero‐Espinar, María L. Couce, Yasuyuki Suzuki, Shunji Tomatsu

    Publicat 2020
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  6. 6
    Newborn screening for Fabry disease in the north-west of Spain

    Newborn screening for Fabry disease in the north-west of Spain per Cristóbal Colón, Saida Ortolano, Cristina Melcón-Crespo, J. Víctor Álvarez, Olalla López-Suárez, María L. Couce, José Ramón Fernández Lorenzo

    Publicat 2017
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  7. 7
    Effects of different arachidonic acid supplementation on psychomotor development in very preterm infants; a randomized controlled trial

    Effects of different arachidonic acid supplementation on psychomotor development in very preterm infants; a randomized controlled trial per Ayham Alshweki, Alejandro Pérez‐Muñuzuri, A Baña, Ma. José de Castro, Fernando Andrade, Luis Aldámiz‐Echevarría, Miguel Sáenz de Pipaón, José M. Fraga, María L. Couce

    Publicat 2015
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  8. 8
    Incidence, Treatment, and Outcome Trends of Necrotizing Enterocolitis in Preterm Infants: A Multicenter Cohort Study

    Incidence, Treatment, and Outcome Trends of Necrotizing Enterocolitis in Preterm Infants: A Multicenter Cohort Study per Carlos Zozaya, Inés García González, Alejandro Ávila-Álvarez, Niki Oikonomopoulou, Tomás Sánchez‐Tamayo, Enrique Salguero, Miguel Sáenz de Pipaón, Fermín García‐Muñoz Rodrigo, María L. Couce

    Publicat 2020
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  9. 9
    Novel Phenotypical and Biochemical Findings in Mucolipidosis Type II

    Novel Phenotypical and Biochemical Findings in Mucolipidosis Type II per Einés Monteagudo-Vilavedra, Daniel Rodrigues, Giovanna Vella, Susana B. Bravo, Carmen Pena, Laura López-Valverde, Cristóbal Colón, Paula Sánchez‐Pintos, Francisco J. Otero‐Espinar, María L. Couce, J. Víctor Álvarez

    Publicat 2025
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  10. 10
    Carbohydrate status in patients with phenylketonuria

    Carbohydrate status in patients with phenylketonuria per María L. Couce, Paula Sánchez‐Pintos, Isidro Vitoria, María-José de Castro, Luis Aldámiz‐Echevarría, Patricia Correcher Medina, Ana Fernández‐Marmiesse, Iria Roca, Á. Hermida Ameijeiras, Miguel Ángel Martínez Olmos, Rosaura Leis

    Publicat 2018
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  11. 11
    Automated therapy preparation of isoleucine formulations using 3D printing for the treatment of MSUD: First single-centre, prospective, crossover study in patients

    Automated therapy preparation of isoleucine formulations using 3D printing for the treatment of MSUD: First single-centre, prospective, crossover study in patients per Álvaro Goyanes, Christine M. Madla, Aysha Umerji, Goretti Duran, Jose Maria Giraldez Montero, María Jesús Lamas, Miguel González Barcia, Farhan Taherali, Paula Sánchez‐Pintos, María L. Couce, Simon Gaisford, Abdul W. Basit

    Publicat 2019
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  12. 12
    P171: Durable efficacy and safety of DTX301: Long-term follow up of a phase 1/2 trial in adults with ornithine transcarbamylase deficiency*

    P171: Durable efficacy and safety of DTX301: Long-term follow up of a phase 1/2 trial in adults with ornithine transcarbamylase deficiency* per Cary O. Harding, Janet L. Thomas, Margo Sheck Breilyn, María L. Couce, Tarekegn Geberhiwot, Nathalie Guffon, Leticia Ceberio Hualde, Aneal Khan, Laura Konczal, Maureen Peters, Lipika Ghosh, J. Lawrence Merritt, Eric Crombez

    Publicat 2025
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  13. 13
    Non-alcoholic fatty liver in hereditary fructose intolerance

    Non-alcoholic fatty liver in hereditary fructose intolerance per Luis Aldámiz‐Echevarría, Javier de las Heras, María L. Couce, Carlos Losilla Alcalde, Isidro Vitoria, María Bueno, Javier Blasco‐Alonso, María Concepción García, Mónica Ruiz, R. Suárez del Villar, Fernando Andrade, Olatz Villate

    Publicat 2019
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  14. 14
    Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

    Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders per Ana Fernández‐Marmiesse, Marcos Morey, Mercè Pineda, Jesús Manuel Eirís Puñal, María L. Couce, Manuel Castro‐Gago, José M. Fraga, Lúcia Lacerda, Sofía Gouveia, María Pérez-Poyato, Judith Armstrong, Daisy Castiñeiras, José A. Cocho

    Publicat 2014
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  15. 15
    Oral Administration to Nursing Women of <i>Lactobacillus fermentum</i> CECT5716 Prevents Lactational Mastitis Development: A Randomized Controlled Trial

    Oral Administration to Nursing Women of <i>Lactobacillus fermentum</i> CECT5716 Prevents Lactational Mastitis Development: A Randomized Controlled Trial per José Antonio Hurtado, Jose A. Maldonado-Lobón, M.P. Díaz-Ropero, Katherine Flores‐Rojas, J. Uberos, José L. Leante, Laura Affumicato, María L. Couce, José María Faílde Garrido, Mónica Olivares, J. Fonollá, the PROLAC Group

    Publicat 2017
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  16. 16
    Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs

    Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs per Terry G. J. Derks, David Rodriguez‐Buritica, Ayesha Ahmad, Foekje de Boer, María L. Couce, Sarah C. Grünert, Philippe Labrune, Nerea López Maldonado, Carolina Fischinger Moura de Souza, Rebecca Riba‐Wolman, Alessandro Rossi, Heather Saavedra, Rupal Naik Gupta, Vassili Valayannopoulos, John J. Mitchell

    Publicat 2021
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  17. 17
    Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

    Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency per Martina Huemer, Daria Diodato, Bernd Schwahn, Manuel Schiff, Anabela Bandeira, Jean‐François Benoist, Alberto Burlina, R. Cerone, María L. Couce, Ángeles García‐Cazorla, Giancarlo la Marca, Elisabetta Pasquini, Laura Vilarinho, James D. Weisfeld‐Adams, Viktor Kožich, Henk J. Blom, Matthias R. Baumgartner, Carlo Dionisi‐Vici

    Publicat 2016
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  18. 18
    Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers

    Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers per Laura López-Valverde, M.E. Vázquez-Mosquera, Cristóbal Colón, Susana B. Bravo, Sofía Gouveia, J. Víctor Álvarez, Rosario Sánchez‐Martínez, Manuel López‐Mendoza, M. López Rodríguez, Eduardo Villacorta, M Goicoechea-Diezhandino, Francisco Guerrero-Márquez, Saida Ortolano, Elisa Leão Teles, Á. Hermida Ameijeiras, María L. Couce

    Publicat 2024
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  19. 19
    The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America

    The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America per Roser Urreizti, Carla Asteggiano, Marta Bermúdez, Alfonso Córdoba, Mariana Szlago, Carola Grosso, Raquel Dodelson de Kremer, Laura Vilarinho, Vânia D’Almeida, Mercedes Martínez‐Pardo, Luis Peña Quintana, Jaime Dalmau, Jaime E. Bernal, Ignacio Briceño, María L. Couce, M. Rodés, María Antònia Vilaseca, Susana Balcells, Daniel Grinberg

    Publicat 2006
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  20. 20
    The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America

    The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America per Roser Urreizti, Carla Asteggiano, Marta Bermúdez, Alfonso Córdoba, Marina Szlago, Carola Grosso, Raquel Dodelson de Kremer, Laura Vilarinho, Vânia D’Almeida, Mercedes Martínez‐Pardo, Luis Peña Quintana, Jaime Dalmau, Jaime E. Bernal, Ignacio Briceño, María L. Couce, M. Rodés, Marı́a Antonia Vilaseca, Susana Balcells, Daniel Grinberg

    Publicat 2007
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