Sökresultat - Celia Pérez‐Cerdá

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  1. 1
    The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein

    The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein av Patricia Yuste‐Checa, Alejandra Gámez, Sandra Brasil, Lourdes R. Desviat, Magdalena Ugarte, Celia Pérez‐Cerdá, Belén Pérez

    Publicerad 2015
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  2. 2
    Protein misfolding diseases: Prospects of pharmacological treatment

    Protein misfolding diseases: Prospects of pharmacological treatment av Alejandra Gámez, Patricia Yuste‐Checa, Sandra Brasil, Alvaro Briso‐Montiano, Lourdes R. Desviat, Magdalena Ugarte, Celia Pérez‐Cerdá, Belén Pérez

    Publicerad 2017
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  3. 3
    Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG

    Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG av Patricia Yuste‐Checa, Sandra Brasil, Alejandra Gámez, Jarl Underhaug, Lourdes R. Desviat, Magdalena Ugarte, Celia Pérez‐Cerdá, Aurora Martı́nez, Belén Pérez

    Publicerad 2016
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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 av 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

    Publicerad 2010
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  5. 5
    The Molecular Basis of 3-Methylcrotonylglycinuria, a Disorder of Leucine Catabolism

    The Molecular Basis of 3-Methylcrotonylglycinuria, a Disorder of Leucine Catabolism av 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

    Publicerad 2001
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  6. 6
    Clinical, biochemical, and molecular studies in pyridoxine‐dependent epilepsy. Antisense therapy as possible new therapeutic option

    Clinical, biochemical, and molecular studies in pyridoxine‐dependent epilepsy. Antisense therapy as possible new therapeutic option av Belén Pérez, Luis González Gutiérrez‐Solana, Alfonso Verdú, B. Merinero, Patricia Yuste‐Checa, Pedro Ruiz‐Sala, Rocío Calvo, Anil Jalan, Laura López Marín, Oscar Campos, María Ángeles Ruiz, Marta San Miguel, María Eugenia Vázquez, Margarita Castro, Isaac Ferrer, Rosa Navarrete, Lourdes R. Desviat, Pablo Lapunzina, Magdalena Ugarte, Celia Pérez‐Cerdá

    Publicerad 2013
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  7. 7
    Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

    Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment av Mercedes Serrano, Víctor de Diego, Jordi Muchart, Daniel Cuadras, Ana Felipe‐Rucián, Alfons Macaya, Ramón Velázquez, M. Pilar Poo, Carmen Fons, M. Mar O’Callaghan, Àngels García‐Cazorla, Cristina Martínez Boix, Bernabé Robles, Francisco Antonio Martínez-Carratalá, M. Girós, Paz Briones, Laura Gort, Rafael Artuch, Celia Pérez‐Cerdá, Jaak Jaeken, Belen Pérez, Belén Pérez‐Dueñas

    Publicerad 2015
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  8. 8
    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 av 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

    Publicerad 2016
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  9. 9
    Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

    Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy av Mercè Izquierdo-Serra, Antonio Federico Martínez‐Monseny, Laura López, Julia Carrillo-García, Albert Edo, Juan Darío Ortigoza‐Escobar, Oscar Coyoli García, Ramón Cancho‐Candela, M L Carrasco-Marina, Luis Gutiérrez-Solana, Daniel Cuadras, Jordi Muchart, Raquel Montero, Rafael Artuch, Celia Pérez‐Cerdá, Belen Pérez, Belén Pérez‐Dueñas, Alfons Macaya, José M. Fernández‐Fernández, Mercedes Serrano

    Publicerad 2018
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  10. 10
    Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

    Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia av Matthias R. Baumgartner, Friederike Hörster, Carlo Dionisi‐Vici, Göknur Haliloğlu, Daniela Karall, Kimberly A. Chapman, Martina Huemer, Michel Hochuli, Murielle Assoun, Diana Ballhausen, Alberto Burlina, Brian Fowler, Sarah C. Grünert, Stephanie Grünewald, Tomáš Honzík, B. Merinero, Celia Pérez‐Cerdá, Sabine Scholl‐Bürgi, Flemming Skovby, Frits A. Wijburg, Anita MacDonald, Diego Martinelli, Jörn Oliver Sass, Vassili Valayannopoulos, Anupam Chakrapani

    Publicerad 2014
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  11. 11
    Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

    Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases av Elena Martín‐Hernández, Luis Aldámiz‐Echevarría, E. Castejón-Ponce, Consuelo Pedrón‐Giner, María L. Couce, Juliana Serrano-Nieto, Guillem Pintos‐Morell, Amaya Bélanger-Quintana, Mercedes Martínez‐Pardo, María Teresa García‐Silva, Pilar Quijada‐Fraile, Isidro Vitoria, Jaime Dalmau, Rosa A. Lama‐More, María Amor Bueno-Delgado, Mirella del Toro-Riera, Inmaculada García‐Jiménez, Concepción Sierra-Córcoles, Mónica Ruiz‐Pons, Luis Peña Quintana, Inmaculada Vives‐Piñera, Ana Heloneida de Araújo Morais, Elena Balmaseda‐Serrano, Silvia Meavilla, Pablo Sanjurjo-Crespo, Celia Pérez‐Cerdá

    Publicerad 2014
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  12. 12
    CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

    CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation av Jos C. Jansen, Sebahattin Çirak, Monique van Scherpenzeel, Sharita Timal, Janine Reunert, Stephan Rust, Belén Pérez, Dorothée Vicogne, Peter Krawitz, Yoshinao Wada, Angel Ashikov, Celia Pérez‐Cerdá, Celia Medrano, Andrea Arnoldy, Alexander Hoischen, Karin Huijben, Gerry Steenbergen, Dulce Quelhas, Luísa Diogo, Daisy Rymen, Jaak Jaeken, Nathalie Guffon, David Cheillan, Lambertus P. van den Heuvel, Yusuke Maeda, Olaf Kaiser, Ulrike Schara, Patrick Gerner, Marjolein A.W. van den Boogert, Adriaan G. Holleboom, Marie‐Cécile Nassogne, Étienne Sokal, Jody Salomon, Geert van den Bogaart, Joost P.H. Drenth, Martijn A. Huynen, Joris A. Veltman, Ron A. Wevers, Éva Morava, Gert Matthijs, François Foulquier, Thorsten Marquardt, Dirk J. Lefeber

    Publicerad 2016
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  13. 13
    Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2

    Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2 av Óscar Rubio Cabezas, Sarah E. Flanagan, Horia Stanescu, Elena García‐Martínez, Richard Caswell, Hana Lango Allen, Montserrat Antón-Gamero, Jesús Argente, Anna-Marie Bussell, André W. Brändli, Chris Cheshire, Elizabeth Crowne, Simona Dumitriu, Robert Drynda, Julian Hamilton‐Shield, Wesley Hayes, Alexis Hofherr, Daniela Iancu, Naomi Issler, Craig Jefferies, Peter M. Jones, Matthew B. Johnson, Anne Kesselheim, Enriko Klootwijk, M Koettgen, Wendy Lewis, José María Martos, Monika Mozere, Jill T. Norman, Vaksha Patel, Andrew Parrish, Celia Pérez‐Cerdá, Jesús Pozo, Sofia Rahman, Neil J. Sebire, Mehmet Tekman, Peter D. Turnpenny, William van’t Hoff, Daan H.H.M. Viering, Michael N. Weedon, Patricia D. Wilson, Lisa M. Guay‐Woodford, Robert Kleta, Khalid Hussain, Sian Ellard, Detlef Böckenhauer

    Publicerad 2017
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