檢索結果 - García Cazorla, Angels

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

Development of the serotonergic cells in murine raphe nuclei and their relations with rhombomeric domains 由 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

獲取全文 獲取全文 獲取全文

Comprehensive Analysis of GABA(A)-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease 由 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

獲取全文 獲取全文 獲取全文

U-IMD: the first Unified European registry for inherited metabolic diseases 由 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

獲取全文 獲取全文 獲取全文

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome 由 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

獲取全文 獲取全文 獲取全文

Effect of blood contamination of cerebrospinal fluid on amino acids, biogenic amines, pterins and vitamins 由 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

獲取全文 獲取全文 獲取全文

Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome 由 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

獲取全文 獲取全文 獲取全文

Decreased hippocampal expression of Calbindin D(28K) and cognitive impairment in MELAS 由 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

獲取全文 獲取全文 獲取全文

Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome 由 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

獲取全文 獲取全文 獲取全文

Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant 由 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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

Plasma coenzyme Q(10) status is impaired in selected genetic conditions 由 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

獲取全文 獲取全文 獲取全文

Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients 由 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

獲取全文 獲取全文 獲取全文

Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism 由 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

獲取全文 獲取全文 獲取全文