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Angels García-Cazorla

Showing results (41-50 of 62) with videos related to

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Clinical Biochemistry|December 20, 2008
Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case reportRaquel Montero, Jose A Sánchez-Alcázar, Paz Briones, et al.
Medicina Clinica|July 11, 2006
[Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier]Aida Ormazabal, Angels García Cazorla, Belén Pérez Dueñas, et al.
Journal of Child Neurology|August 18, 2009
Neuropsychiatric manifestations in late-onset urea cycle disorder patientsMercedes Serrano, Cecilia Martins, Belén Pérez-Dueñas, et al.
Journal of Inherited Metabolic Disease|September 21, 2010
Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disordersElisa De Grandis, Mercedes Serrano, Belén Pérez-Dueñas, et al.
Neurogenetics|March 24, 2019
Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variantSofía Sánchez-Iglesias, Melissa Crocker, Mar O'Callaghan, et al.
Journal of Inherited Metabolic Disease|July 6, 2018
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experienceMarta Batllori, Marta Molero-Luis, Aida Ormazabal, et al.
Human Mutation|March 1, 2017
Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the diseaseIrene Bravo-Alonso, Rosa Navarrete, Laura Arribas-Carreira, et al.
Scientific Reports|January 30, 2019
Plasma coenzyme Q<sub>10</sub> status is impaired in selected genetic conditionsRaquel Montero, Delia Yubero, Maria C Salgado, et al.
Brain Pathology (Zurich, Switzerland)|November 30, 2022
Leigh syndrome is the main clinical characteristic of PTCD3 deficiencyGerard Muñoz-Pujol, Juan D Ortigoza-Escobar, Abraham J Paredes-Fuentes, et al.
Frontiers in Genetics|January 24, 2020
Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion SyndromeSonia Emperador, Nuria Garrido-Pérez, Javier Amezcua-Gil, et al.
Pageof 7

Showing results (41-50 of 62) with videos related to

Sort By:
Pageof 7
Clinical Biochemistry|December 20, 2008
Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case reportRaquel Montero, Jose A Sánchez-Alcázar, Paz Briones, et al.
Medicina Clinica|July 11, 2006
[Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier]Aida Ormazabal, Angels García Cazorla, Belén Pérez Dueñas, et al.
Journal of Child Neurology|August 18, 2009
Neuropsychiatric manifestations in late-onset urea cycle disorder patientsMercedes Serrano, Cecilia Martins, Belén Pérez-Dueñas, et al.
Journal of Inherited Metabolic Disease|September 21, 2010
Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disordersElisa De Grandis, Mercedes Serrano, Belén Pérez-Dueñas, et al.
Neurogenetics|March 24, 2019
Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variantSofía Sánchez-Iglesias, Melissa Crocker, Mar O'Callaghan, et al.
Journal of Inherited Metabolic Disease|July 6, 2018
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experienceMarta Batllori, Marta Molero-Luis, Aida Ormazabal, et al.
Human Mutation|March 1, 2017
Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the diseaseIrene Bravo-Alonso, Rosa Navarrete, Laura Arribas-Carreira, et al.
Scientific Reports|January 30, 2019
Plasma coenzyme Q<sub>10</sub> status is impaired in selected genetic conditionsRaquel Montero, Delia Yubero, Maria C Salgado, et al.
Brain Pathology (Zurich, Switzerland)|November 30, 2022
Leigh syndrome is the main clinical characteristic of PTCD3 deficiencyGerard Muñoz-Pujol, Juan D Ortigoza-Escobar, Abraham J Paredes-Fuentes, et al.
Frontiers in Genetics|January 24, 2020
Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion SyndromeSonia Emperador, Nuria Garrido-Pérez, Javier Amezcua-Gil, et al.
Pageof 7