Search Results - Pilar Rodríguez‐Pombo

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  1. 1
    Candida albicans estrogen-binding protein gene encodes an oxidoreductase that is inhibited by estradiol.

    Candida albicans estrogen-binding protein gene encodes an oxidoreductase that is inhibited by estradiol. by Nahid D. Madani, P J Malloy, Pilar Rodríguez‐Pombo, Arunkumar Krishnan, David Feldman

    Published 1994
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  2. 2
    A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in the<i>PPM</i><i>1</i><i>K</i>Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease

    A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in the<i>PPM</i><i>1</i><i>K</i>Gene Causes a Mild Variant Phenotype of Maple Sy... by Alfonso Oyarzábal, Mercedes Martínez‐Pardo, B. Merinero, Rosa Navarrete, Lourdes R. Desviat, Magdalena Ugarte, Pilar Rodríguez‐Pombo

    Published 2012
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  3. 3
    Thiamine transporter-2 deficiency: outcome and treatment monitoring

    Thiamine transporter-2 deficiency: outcome and treatment monitoring by Juan Darío Ortigoza‐Escobar, Mercedes Serrano, Marta Molero, Alfonso Oyarzábal, Mónica Rebollo, Jordi Muchart, Rafael Artuch, Pilar Rodríguez‐Pombo, Belén Pérez‐Dueñas

    Published 2014
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  4. 4
    The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America

    The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America by Belén Pérez, Celia J. Angaroni, Rocío Sánchez-Alcudia, B. Merinero, Celia Pérez‐Cerdá, Norma Spécola, Pilar Rodríguez‐Pombo, Moacır Wajner, Raquel Dodelson de Kremer, Verónica Cornejo, Lourdes R. Desviat, Magdalena Ugarte

    Published 2010
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  5. 5
    An ETFDH-driven metabolon supports OXPHOS efficiency in skeletal muscle by regulating coenzyme Q homeostasis

    An ETFDH-driven metabolon supports OXPHOS efficiency in skeletal muscle by regulating coenzyme Q homeostasis by Juan Cruz Herrero Martín, Beñat Salegi Ansa, Gerardo Álvarez‐Rivera, Sonia Domínguez-Zorita, Pilar Rodríguez‐Pombo, Belén Pérez, Enrique Calvo, Alberto Paradela, David G. Míguez, Alejandro Cifuentes, José M. Cuezva, Laura Formentini

    Published 2024
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  6. 6
    Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors

    Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors by Juan Darío Ortigoza‐Escobar, Majid Alfadhel, Marta Molero‐Luis, Niklas Darín, Ronen Spiegel, I.F.M. de Coo, Mike Gerards, Robert W. Taylor, Rafael Artuch, Marwan Nashabat, Pilar Rodríguez‐Pombo, Brahim Tabarki, Belén Pérez‐Dueñas

    Published 2017
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  7. 7
    Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome

    Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome by Juan Darío Ortigoza‐Escobar, Marta Molero‐Luis, Ángela Arias, Alfonso Oyarzábal, Niklas Darín, Mercedes Serrano, Àngels García‐Cazorla, Mireia Tondo, María Isabel Hernández, Judit García‐Villoria, Mercedes Casado, Laura Gort, Johannes A. Mayr, Pilar Rodríguez‐Pombo, Antònia Ribes, Rafael Artuch, Belén Pérez‐Dueñas

    Published 2015
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  8. 8
    The Molecular Basis of 3-Methylcrotonylglycinuria, a Disorder of Leucine Catabolism

    The Molecular Basis of 3-Methylcrotonylglycinuria, a Disorder of Leucine Catabolism by M. Esther Gallardo, Lourdes R. Desviat, José Manuel Rodríguez Rodríguez, Jorge Esparza-Gordillo, Celia Pérez‐Cerdá, Belén Pérez, Pilar Rodríguez‐Pombo, Olga Criado‐García, Raúl Sanz, D. Holmes Morton, K. Michael Gibson, Thuy Le, Antònia Ribes, Santiago Rodrı́guez de Córdoba, Magdalena Ugarte, Miguel Á. Peñalva

    Published 2001
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  9. 9
    Two Novel Mutations in the<i>BCKDK</i>(Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

    Two Novel Mutations in the<i>BCKDK</i>(Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients by Àngels García‐Cazorla, Alfonso Oyarzábal, Joana Fort, Concepción López Robles, Esperanza Castejón, Pedro Ruiz‐Sala, Susanna Bodoy, B. Merinero, Anna López‐Sala, Joaquı́n Dopazo, Virginia Nunes, Magdalena Ugarte, Rafael Artuch, Manuel Palacı́n, Pilar Rodríguez‐Pombo, Patricia Alcaide, Rosa Navarrete, Paloma Sanz, Mariona Font-Llitjós, MA Vilaseca, Aida Ormaizabal, Anna Přistoupilová, Sergi Beltrán

    Published 2014
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  10. 10
    The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

    The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT by Curtis R. Coughlin, Michael A. Swanson, Kathryn E. Kronquist, Cécile Acquaviva, Tim Hutchin, Pilar Rodríguez‐Pombo, Marja-Leena Väisänen, Elaine Spector, Geralyn Creadon‐Swindell, Ana M. Brás-Goldberg, Elisa Rahikkala, Jukka S. Moilanen, Vincent Mahieu, Gert Matthijs, Irene Bravo‐Alonso, Celia Pérez‐Cerdá, Magdalena Ugarte, Christine Vianey‐Saban, Gunter Scharer, Johan L.K. Van Hove

    Published 2016
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  11. 11
    Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease

    Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease by Gillian Rice, Naoki Kitabayashi, Magalie Barth, Tracy A. Briggs, Annabel Burton, Maria Luisa Carpanelli, Alfredo Cerisola, Cindy Colson, Russell C. Dale, Federica Rachele Danti, Niklas Darín, Begoña De Azua, Valentina De Giorgis, Christian De Goede, Isabelle Desguerre, Corinne De Laet, Atieh Eslahi, Michael Fahey, Penny Fallon, Alex J. Fay, Elisa Fazzi, Mark Gorman, Nirmala Gowrinathan, Marie Hully, Manju A. Kurian, Nicolas Leboucq, Jean‐Pierre Lin, Matthew A. Lines, Soe Mar, Reza Maroofian, Laura Martí‐Sánchez, Gary McCullagh, Majid Mojarrad, Vinodh Narayanan, Simona Orcesi, Juan Darío Ortigoza‐Escobar, Belén Pérez‐Dueñas, Florence Petit, Keri Ramsey, Magnhild Rasmussen, François Rivier, Pilar Rodríguez‐Pombo, Agathe Roubertie, Tommy Stödberg, Mehran Beiraghi Toosi, Annick Toutain, Florence Uettwiller, Nicole Ulrick, Adeline Vanderver, Amy Waldman, John H. Livingston, Yanick J. Crow

    Published 2017
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