Cerebrospinal fluid neopterin analysis in neuropediatric patients: establishment of a new cut off-value for the identification of inflammatory-immune mediated processes.

by Marta Molero-Luis, Sergio Fernández-Ureña, Iolanda Jordán, Mercedes Serrano, Aida Ormazábal, Àngels Garcia-Cazorla, Rafael Artuch, Neopterin Working Group
Published 2013-01-01

Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy

by Alba-Aina Castells, Rafel Balada, Alba Tristán-Noguero, Mar O’Callaghan, Elisenda Cortès-Saladelafont, Ainhoa Pascual-Alonso, Àngels Garcia-Cazorla, Judith Armstrong, Soledad Alcántara
Published 2021-02-01

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

by Dèlia Yubero, Núria Brandi, Aida Ormazabal, Àngels Garcia-Cazorla, Belén Pérez-Dueñas, Jaime Campistol, Antonia Ribes, Francesc Palau, Rafael Artuch, Judith Armstrong, Working Group
Published 2016-01-01

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

by Thomas Opladen, Florian Gleich, Viktor Kozich, Maurizio Scarpa, Diego Martinelli, Franz Schaefer, Kathrin Jeltsch, Natalia Juliá-Palacios, Ángels García-Cazorla, Carlo Dionisi-Vici, Stefan Kölker
Published 2021-02-01

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 Alfonso Oyarzabal, Clara Xiol, Alba Aina Castells, Cristina Grau, Mar O’Callaghan, Guerau Fernández, Soledad Alcántara, Mercè Pineda, Judith Armstrong, Xavier Altafaj, Angels García-Cazorla
Published 2020-01-01

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

by Marta Batllori, Mercedes Casado, Cristina Sierra, Maria del Carmen Salgado, Laura Marti-Sanchez, Joan Maynou, Guerau Fernandez, Angels Garcia-Cazorla, Aida Ormazabal, Marta Molero-Luis, Rafael Artuch
Published 2019-11-01

Abnormal expression of cerebrospinal fluid cation chloride cotransporters in patients with Rett syndrome.

by Sofia Temudo Duarte, Judith Armstrong, Ana Roche, Carlos Ortez, Ana Pérez, Maria del Mar O'Callaghan, Antonina Pereira, Francesc Sanmartí, Aida Ormazábal, Rafael Artuch, Mercedes Pineda, Angels García-Cazorla
Published 2013-01-01

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

by Silvia Vidal, Núria Brandi, Paola Pacheco, Edgar Gerotina, Laura Blasco, Jean-Rémi Trotta, Sophia Derdak, Maria del Mar O’Callaghan, Àngels Garcia-Cazorla, Mercè Pineda, Judith Armstrong, Rett Working Group
Published 2021-09-01

Impairment of adenosinergic system in Rett syndrome: Novel therapeutic target to boost BDNF signalling

by Catarina Miranda-Lourenço, Sofia T. Duarte, Cátia Palminha, Cláudia Gaspar, Tiago M. Rodrigues, Teresa Magalhães-Cardoso, Nádia Rei, Mariana Colino-Oliveira, Rui Gomes, Sara Ferreira, Jéssica Rosa, Sara Xapelli, Judith Armstrong, Àngels García-Cazorla, Paulo Correia-de-Sá, Ana M. Sebastião, Maria José Diógenes
Published 2020-11-01

Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome

by Sonia Emperador, Sonia Emperador, Sonia Emperador, Nuria Garrido-Pérez, Nuria Garrido-Pérez, Nuria Garrido-Pérez, Javier Amezcua-Gil, Paula Gaudó, Julio Alberto Andrés-Sanz, Delia Yubero, Delia Yubero, Ana Fernández-Marmiesse, Maria M. O’Callaghan, Maria M. O’Callaghan, Juan D. Ortigoza-Escobar, Juan D. Ortigoza-Escobar, Marti Iriondo, Marti Iriondo, Eduardo Ruiz-Pesini, Eduardo Ruiz-Pesini, Eduardo Ruiz-Pesini, Eduardo Ruiz-Pesini, Angels García-Cazorla, Angels García-Cazorla, Mercedes Gil-Campos, Mercedes Gil-Campos, Rafael Artuch, Rafael Artuch, Julio Montoya, Julio Montoya, Julio Montoya, María Pilar Bayona-Bafaluy, María Pilar Bayona-Bafaluy, María Pilar Bayona-Bafaluy
Published 2020-01-01

Betaine anhydrous in homocystinuria: results from the RoCH registry

by Vassili Valayannopoulos, Manuel Schiff, Nathalie Guffon, Yann Nadjar, Angels García-Cazorla, Mercedes Martinez-Pardo Casanova, Aline Cano, Maria L. Couce, Jaime Dalmau, Luis Peña-Quintana, Vincent Rigalleau, Guy Touati, Luis Aldamiz-Echevarria, Pascal Cathebras, Didier Eyer, Dominique Brunet, Léna Damaj, Dries Dobbelaere, Claire Gay, Sylvie Hiéronimus, Virginie Levrat, François Maillot
Published 2019-03-01

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

by Cristina Jou, Juan D. Ortigoza-Escobar, Maria M. O’Callaghan, Andres Nascimento, Alejandra Darling, Leticia Pias-Peleteiro, Belén Perez-Dueñas, Mercedes Pineda, Anna Codina, César Arjona, Judith Armstrong, Francesc Palau, Antonia Ribes, Laura Gort, Frederic Tort, Placido Navas, Eduardo Ruiz-Pesini, Sonia Emperador, Ester Lopez-Gallardo, Pilar Bayona-Bafaluy, Raquel Montero, Cecilia Jimenez-Mallebrera, Angels Garcia-Cazorla, Julio Montoya, Delia Yubero, Rafael Artuch
Published 2019-01-01

Erratum to: Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders

by Linda Cassis, Elisenda Cortès-Saladelafont, Marta Molero-Luis, Delia Yubero, Maria Julieta González, Aida Ormazábal, Carme Fons, Cristina Jou, Cristina Sierra, Esperanza Castejon Ponce, Federico Ramos, Judith Armstrong, M. Mar O’Callaghan, Mercedes Casado, Raquel Montero, Silvia Meavilla-Olivas, Rafael Artuch, Ivo Barić, Franco Bartoloni, Cinzia Maria Bellettato, Fedele Bonifazi, Adriana Ceci, Ljerka Cvitanović-Šojat, Christine I. Dali, Francesca D’Avanzo, Ksenija Fumic, Viviana Giannuzzi, Christina Lampe, Maurizio Scarpa, Ángels Garcia-Cazorla
Published 2016-11-01