Search Results - García Cazorla, Angels

Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology by García-Cazorla, Àngels, Saudubray, Jean-Marie

Get full text Get full text Get full text

Cerebrospinal Fluid Neopterin Analysis in Neuropediatric Patients: Establishment of a New Cut Off-Value for the Identification of Inflammatory-Immune Mediated Processes by Molero-Luis, Marta, Fernández-Ureña, Sergio, Jordán, Iolanda, Serrano, Mercedes, Ormazábal, Aida, Garcia-Cazorla, Àngels, Artuch, Rafael

Get full text Get full text Get full text

Efficacy of baricitinib on chronic pericardial effusion in a patient with Aicardi–Goutières syndrome by Casas-Alba, Dídac, Darling, Alejandra, Caballero, Eva, Mensa-Vilaró, Anna, Bartrons, Joaquim, Antón, Jordi, García-Cazorla, Àngels, Vanderver, Adeline, Armangué, Thaís

Get full text Get full text Get full text

5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes by Calpena, Eduardo, Casado, Mercedes, Martínez-Rubio, Dolores, Nascimento, Andrés, Colomer, Jaume, Gargallo, Eva, García-Cazorla, Angels, Palau, Francesc, Artuch, Rafael, Espinós, Carmen

Get full text Get full text Get full text

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism by Yubero, Dèlia, Brandi, Núria, Ormazabal, Aida, Garcia-Cazorla, Àngels, Pérez-Dueñas, Belén, Campistol, Jaime, Ribes, Antonia, Palau, Francesc, Artuch, Rafael, Armstrong, Judith

Get full text Get full text Get full text

cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period by Palanca, Daniel, Garcia-Cazorla, Angels, Ortiz, Jessica, Jou, Cristina, Cusí, Victoria, Suñol, Mariona, Toll, Teresa, Perez, Belén, Ormazabal, Aida, Fowler, Brian, Artuch, Rafael

Get full text Get full text Get full text

Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy by Castells, Alba-Aina, Balada, Rafel, Tristán-Noguero, Alba, O’Callaghan, Mar, Cortès-Saladelafont, Elisenda, Pascual-Alonso, Ainhoa, Garcia-Cazorla, Àngels, Armstrong, Judith, Alcántara, Soledad

Get full text Get full text Get full text

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

Get full text Get full text Get full text

Comprehensive Analysis of GABA(A)-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease by Oyarzabal, Alfonso, Xiol, Clara, Castells, Alba Aina, Grau, Cristina, O’Callaghan, Mar, Fernández, Guerau, Alcántara, Soledad, Pineda, Mercè, Armstrong, Judith, Altafaj, Xavier, García-Cazorla, Angels

Get full text Get full text Get full text

U-IMD: the first Unified European registry for inherited metabolic diseases by Opladen, Thomas, Gleich, Florian, Kozich, Viktor, Scarpa, Maurizio, Martinelli, Diego, Schaefer, Franz, Jeltsch, Kathrin, Juliá-Palacios, Natalia, García-Cazorla, Ángels, Dionisi-Vici, Carlo, Kölker, Stefan

Get full text Get full text Get full text

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome by Vidal, Silvia, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, Blasco, Laura, Trotta, Jean-Rémi, Derdak, Sophia, del Mar O’Callaghan, Maria, Garcia-Cazorla, Àngels, Pineda, Mercè, Armstrong, Judith

Get full text Get full text Get full text

Effect of blood contamination of cerebrospinal fluid on amino acids, biogenic amines, pterins and vitamins by Batllori, Marta, Casado, Mercedes, Sierra, Cristina, Salgado, Maria del Carmen, Marti-Sanchez, Laura, Maynou, Joan, Fernandez, Guerau, Garcia-Cazorla, Angels, Ormazabal, Aida, Molero-Luis, Marta, Artuch, Rafael

Get full text Get full text Get full text

Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome by Vidal, Silvia, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, Blasco, Laura, Trotta, Jean-Rémi, Derdak, Sophia, del Mar O’Callaghan, Maria, Garcia-Cazorla, Àngels, Pineda, Mercè, Armstrong, Judith

Get full text Get full text Get full text

Decreased hippocampal expression of Calbindin D(28K) and cognitive impairment in MELAS by Emmanuele, Valentina, Garcia-Cazorla, Angels, Huang, Hua-Bin, Çoku, Jorida, Dorado, Beatriz, Cortes, Etty P, Engelstad, Kristin, De Vivo, Darryl C., DiMauro, Salvatore, Bonilla, Eduardo, Tanji, Kurenai

Get full text Get full text Get full text

Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome by Duarte, Sofia Temudo, Armstrong, Judith, Roche, Ana, Ortez, Carlos, Pérez, Ana, O’Callaghan, Maria del Mar, Pereira, Antonina, Sanmartí, Francesc, Ormazábal, Aida, Artuch, Rafael, Pineda, Mercedes, García-Cazorla, Angels

Get full text Get full text Get full text

Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant by Sánchez-Iglesias, Sofía, Crocker, Melissa, O’Callaghan, Mar, Darling, Alejandra, García-Cazorla, Angels, Domingo-Jiménez, Rosario, Castro, Ana, Fernández-Pombo, Antía, Ruibal, Álvaro, Aguiar, Pablo, Garrido-Pumar, Miguel, Rodríguez-Núñez, Antonio, Álvarez-Escudero, Julián, Brown, Rebecca J., Araújo-Vilar, David

Get full text Get full text Get full text

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders by Opladen, Thomas, Cortès-Saladelafont, Elisenda, Mastrangelo, Mario, Horvath, Gabriella, Pons, Roser, Lopez-Laso, Eduardo, Fernández-Ramos, Joaquín A., Honzik, Tomas, Pearson, Toni, Friedman, Jennifer, Scholl-Bürgi, Sabine, Wassenberg, Tessa, Jung-Klawitter, Sabine, Kuseyri, Oya, Jeltsch, Kathrin, Kurian, Manju A., Garcia-Cazorla, Àngels

Get full text Get full text Get full text

Plasma coenzyme Q(10) status is impaired in selected genetic conditions by Montero, Raquel, Yubero, Delia, Salgado, Maria C., González, María Julieta, Campistol, Jaume, O’Callaghan, Maria del Mar, Pineda, Mercè, Delgadillo, Verónica, Maynou, Joan, Fernandez, Guerau, Montoya, Julio, Ruiz-Pesini, Eduardo, Meavilla, Silvia, Neergheen, Viruna, García-Cazorla, Angels, Navas, Placido, Hargreaves, Iain, Artuch, Rafael

Get full text Get full text Get full text

Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients by Batllori, Marta, Molero-Luis, Marta, Arrabal, Luisa, Heras, Javier de las, Fernandez-Ramos, Joaquín-Alejandro, Gutiérrez-Solana, Luis González, Ibáñez-Micó, Salvador, Domingo, Rosario, Campistol, Jaume, Ormazabal, Aida, Sedel, Frederic, Opladen, Thomas, Zouvelou, Basiliki, Pons, Roser, Garcia-Cazorla, Angels, Lopez-Laso, Eduardo, Artuch, Rafael

Get full text Get full text Get full text

Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism by Castells, Alba-Aina, Gueraldi, Daniela, Balada, Rafel, Tristán-Noguero, Alba, Cortès-Saladelafont, Elisenda, Ramos, Federico, Meavilla, Silvia, De Los Santos, Mariela, Garcia-Volpe, Camila, Colomé, Roser, Couce, Maria Luz, Sierra, Cristina, Ormazábal, Aida, Batllori, Marta, Artuch, Rafael, Armstrong, Judith, Alcántara, Soledad, Garcia-Cazorla, Àngels

Get full text Get full text Get full text