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

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

Comprehensive Analysis of GABA_A-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease

بواسطة 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
منشور في 2020-01-01

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

بواسطة 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
منشور في 2019-11-01

Betaine anhydrous in homocystinuria: results from the RoCH registry

بواسطة 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
منشور في 2019-03-01