A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders

by Juan Darío Ortigoza-Escobar
Published 2020-11-01

Editorial: Pediatric Neurometabolic Disorders

by Brahim Tabarki, Juan Dario Ortigoza-Escobar, Wang-Tso Lee, Majid AlFadhel, Majid AlFadhel
Published 2021-09-01

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

by Mercè Izquierdo-Serra, Antonio F. Martínez-Monseny, Laura López, Julia Carrillo-García, Albert Edo, Juan Darío Ortigoza-Escobar, Óscar García, Ramón Cancho-Candela, M Llanos Carrasco-Marina, Luis G. Gutiérrez-Solana, Daniel Cuadras, Jordi Muchart, Raquel Montero, Rafael Artuch, Celia Pérez-Cerdá, Belén Pérez, Belén Pérez-Dueñas, Alfons Macaya, José M. Fernández-Fernández, Mercedes Serrano
Published 2018-02-01

The European Reference Network for Rare Neurological Diseases

by Carola Reinhard, Carola Reinhard, Anne-Catherine Bachoud-Lévi, Anne-Catherine Bachoud-Lévi, Anne-Catherine Bachoud-Lévi, Tobias Bäumer, Tobias Bäumer, Enrico Bertini, Alicia Brunelle, Alicia Brunelle, Annemieke I. Buizer, Antonio Federico, Thomas Gasser, Thomas Gasser, Samuel Groeschel, Sanja Hermanns, Sanja Hermanns, Thomas Klockgether, Ingeborg Krägeloh-Mann, G. Bernhard Landwehrmeyer, Isabelle Leber, Isabelle Leber, Alfons Macaya, Caterina Mariotti, Wassilios G. Meissner, Wassilios G. Meissner, Maria Judit Molnar, Jorik Nonnekes, Juan Dario Ortigoza Escobar, Belen Pérez Dueñas, Lori Renna Linton, Ludger Schöls, Rebecca Schuele, Rebecca Schuele, Marina A. J. Tijssen, Rik Vandenberghe, Rik Vandenberghe, Anna Volkmer, Anna Volkmer, Nicole I. Wolf, Holm Graessner, Holm Graessner
Published 2021-01-01