Resultados de búsqueda - Àngels García‐Cazorla

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  1. 1
    Energy metabolism in childhood neurodevelopmental disorders

    Energy metabolism in childhood neurodevelopmental disorders por Alfonso Oyarzábal, Uliana Musokhranova, Barros LF, Àngels García‐Cazorla

    Publicado 2021
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  2. 2
    The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview

    The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview por Àngels García‐Cazorla, Fanny Mochel, Foudil Lamari, Jean‐Marie Saudubray

    Publicado 2014
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  3. 3
    Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders

    Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders por Marta Molero‐Luis, Mercedes Serrano, Aída Ormazábal, Belén Pérez‐Dueñas, Àngels García‐Cazorla, Roser Pons, Rafael Artuch

    Publicado 2013
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  4. 4
    Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders

    Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders por Jaume Campistol, María Díez‐Juan, Laura Callejón, Aroa Fernandez‐De Miguel, Mercedes Casado, Àngels García Cazorla, Reymundo Lozano, Rafael Artuch

    Publicado 2016
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  5. 5
    Spermidine Recovers the Autophagy Defects Underlying the Pathophysiology of Cell Trafficking Disorders

    Spermidine Recovers the Autophagy Defects Underlying the Pathophysiology of Cell Trafficking Disorders por Yaiza Díaz‐Osorio, Helena Gimeno‐Agud, Rosanna Mari‐Vico, Sofía Illescas, J. Ramos, Alejandra Darling, Àngels García‐Cazorla, Alfonso Oyarzábal

    Publicado 2025
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  6. 6
    Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

    Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism por Dèlia Yubero, Núria Brandi, Aída Ormazábal, Àngels García‐Cazorla, Belén Pérez‐Dueñas, Jaime Campistol, Antònia Ribes, Francesc Palau, Rafael Artuch, Judith Armstrong

    Publicado 2016
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  7. 7
    Development of the serotonergic cells in murine raphe nuclei and their relations with rhombomeric domains

    Development of the serotonergic cells in murine raphe nuclei and their relations with rhombomeric domains por Antonia Alonso, Paloma Merchán, Juan E. Sandoval, Luisa Sánchez‐Arrones, Àngels García‐Cazorla, Rafael Artuch, José Luis Ferrán, Margaret Martínez‐de‐la‐Torre, Luis Puelles

    Publicado 2012
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  8. 8
    Spermidine Treatment Improves <scp>GRIN2B</scp> Loss‐Of‐Function, A Primary Disorder of Glutamatergic Neurotransmission

    Spermidine Treatment Improves <scp>GRIN2B</scp> Loss‐Of‐Function, A Primary Disorder of Glutamatergic Neurotransmission por Ana Santos‐Gómez, Natalia Juliá‐Palacios, A. Rejano‐Bosch, Rosanna Mari‐Vico, Federico Míguez‐Cabello, Mercè Masana, David Soto, Mireia Olivella, Àngels García‐Cazorla, Xavier Altafaj

    Publicado 2025
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  9. 9
    Cerebral Folate Deficiency Syndromes in Childhood

    Cerebral Folate Deficiency Syndromes in Childhood por Belén Pérez‐Dueñas, Aída Ormazábal, Claudio Toma, Bàrbara Torrico, Bru Cormand, Mercedes Serrano, Cristina Sierra, Elisa De Grandis, Mercè Pineda Marfà, Àngels García‐Cazorla, Jaime Campistol, Juan M. Pascual, Rafael Artuch

    Publicado 2011
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  10. 10
    Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome

    Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome por Sofia Duarte, Judith Armstrong, Ana Roche, C. Ortez, Ana Paula da Silva Perez, María del Mar O’Callaghan, Antonina Pereira, Francesc Sanmartí, Aída Ormazábal, Rafael Artuch, Mercédes Pineda, Àngels García‐Cazorla

    Publicado 2013
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  11. 11
    A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities

    A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities por Dèlia Yubero, Aritz Adin, Raquel Montero, Cristina Jou, C. Jimenez‐Mallebrera, Àngels García‐Cazorla, A. Nascimento, M. Mar O’Callaghan, Julio Montoya, Laura Gort, Plácido Navas, Antònia Ribes, M. D. Ugarte, Rafael Artuch

    Publicado 2016
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  12. 12
    Mutations in the lipoyltransferase<i>LIPT1</i>gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes

    Mutations in the lipoyltransferase<i>LIPT1</i>gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes por Frederic Tort, Xènia Ferrer-Cortés, Marta Thió, Aleix Navarro‐Sastre, Leslie Matalonga, Ester Quintana, Núria Bujan, Ángela Arias, Judit García‐Villoria, Cécile Acquaviva, Christine Vianey‐Saban, Rafael Artuch, Àngels García‐Cazorla, Paz Briones, Antònia Ribes

    Publicado 2013
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  13. 13
    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 por 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

    Publicado 2015
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  14. 14
    The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

    The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders por Thomas Opladen, Elisenda Cortès‐Saladelafont, Mario Mastrangelo, Gabriella Horváth, Roser Pons, Eduardo López‐Laso, Joaquín Alejandro Fernández‐Ramos, Tomáš Honzík, Toni S. Pearson, Jennifer Friedman, Sabine Scholl‐Bürgi, Tessa Wassenberg, Sabine Jung‐Klawitter, Oya Kuseyri Hübschmann, Kathrin Jeltsch, Manju A. Kurian, Àngels García‐Cazorla

    Publicado 2016
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  15. 15
    The presence and severity of epilepsy coincide with reduced γ‐aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency

    The presence and severity of epilepsy coincide with reduced γ‐aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency por Itay Tokatly Latzer, Mariarita Bertoldi, Melissa L. DiBacco, Erland Arning, Melissa Tsuboyama, Paul MacMullin, Daniyal Sachee, Alexander Rotenberg, Henry H.C. Lee, Deniz Aygun, Thomas Opladen, Kathrin Jeltsch, Àngels García‐Cazorla, Jean‐Baptiste Roullet, K. Michael Gibson, Phillip L. Pearl

    Publicado 2023
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  16. 16
    Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases

    Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases por Marta Molero‐Luis, Dídac Casas‐Alba, Gabriela Orellana, Aída Ormazábal, Cristina Sierra, Clara Oliva, Anna Valls, Jesús Velasco, Cristian Launes, Daniel Cuadras, Belén Pérez‐Dueñas, Iolanda Jordán, Francisco José Cambra Lasaosa, Juan Darío Ortigoza‐Escobar, Carmen Muñoz‐Almagro, Àngels García‐Cazorla, Thaís Armangué, Rafael Artuch

    Publicado 2020
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  17. 17
    Diagnosis and management of glutaric aciduria type I – revised recommendations

    Diagnosis and management of glutaric aciduria type I – revised recommendations por Stefan Kölker, Ernst Christensen, James V. Leonard, Cheryl R. Greenberg, Avihu Boneh, Alberto Burlina, Alessandro P. Burlina, Marjorie Dixon, Marinus Durán, Àngels García Cazorla, Stephen I. Goodman, David M. Koeller, Mårten Kyllerman, Chris Mühlhausen, Edith Müller, Jürgen G. Okun, Bridget Wilcken, Georg F. Hoffmann, Peter Burgard

    Publicado 2011
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  18. 18
    Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity

    Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity por Laura Planas‐Serra, Nathalie Launay, Leire Goicoechea, Bénédicte Héron, Cristina Jou, Natalia Juliá‐Palacios, Montserrat Ruíz, Stéphane Fourcade, Carlos Casasnovas, Carolina de la Torre, A. Gélot, María Marsal, Pablo Loza‐Álvarez, Àngels García‐Cazorla, Ali Fatemi, Isidró Ferrer, Manuel Portero‐Otín, Estela Area‐Gómez, Aurora Pujol

    Publicado 2023
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  19. 19
    Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder

    Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder por Itay Tokatly Latzer, Jean‐Baptiste Roullet, Wardiya Afshar Saber, Henry H.C. Lee, Mariarita Bertoldi, Gabrielle E. McGinty, Melissa L. DiBacco, Erland Arning, Melissa Tsuboyama, Alexander Rotenberg, Thomas Opladen, Kathrin Jeltsch, Àngels García‐Cazorla, Natalia Juliá‐Palacios, K. Michael Gibson, Mustafa Şahin, Phillip L. Pearl

    Publicado 2024
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  20. 20
    Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome

    Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome por Pilar Quijada‐Fraile, Mar O’Callaghan, Elena Martín‐Hernández, Raquel Montero, Àngels García‐Cazorla, Ana Martı́nez de Aragón, Jordi Muchart, Ignacio Málaga, R Pardo, Pedro García-Gonzalez, Cristina Jou, Julio Montoya, Sonia Emperador, Eduardo Ruiz‐Pesini, Joaquı́n Arenas, Miguel A. Martı́n, Aída Ormazábal, Mercè Pineda, María Teresa García‐Silva, Rafael Artuch

    Publicado 2014
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