1. High‐dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes syndrome. (18th November 2022) Authors: Guerrero‐Molina, María Paz; Morales‐Conejo, Montserrat; Delmiro, Aitor; Morán, María; Domínguez‐González, Cristina; Arranz‐Canales, Elena; Ramos‐González, Ana; Arenas, Joaquín; Martín, Miguel A.; de la Aleja, Jesús González Journal: European journal of neurology Issue: Volume 30:Number 2(2023) Page Start: 538 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy. (2nd June 2015) Authors: Cámara, Yolanda; Carreño-Gago, Lidia; Martín, Miguel A.; Melià, Maria J.; Blázquez, Alberto; Delmiro, Aitor; Garrabou, Gloria; Morén, Constanza; Díaz-Manera, Jorge; Gallardo, Eduard; Bornstein, Belén; López-Gallardo, Ester; Hernández-Lain, Aurelio; San Millán, Beatriz; Cancho, Esther; Rodríguez-V... Journal: Neurology Issue: Volume 84:Number 22(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy. (2nd June 2015) Authors: Cámara, Yolanda; Carreño-Gago, Lidia; Martín, Miguel A.; Melià, Maria J.; Blázquez, Alberto; Delmiro, Aitor; Garrabou, Gloria; Morén, Constanza; Díaz-Manera, Jorge; Gallardo, Eduard; Bornstein, Belén; López-Gallardo, Ester; Hernández-Lain, Aurelio; San Millán, Beatriz; Cancho, Esther; Rodríguez-V... Journal: Neurology Issue: Volume 84:Number 22(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Whole‐Exome Sequencing Identifies a Variant of the Mitochondrial MT‐ND1 Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox–Gastaut Syndrome. Issue 12 (10th October 2013) Authors: Delmiro, Aitor; Rivera, Henry; García‐Silva, María Teresa; García‐Consuegra, Inés; Martín‐Hernández, Elena; Quijada‐Fraile, Pilar; de, Rogelio Simón; Moreno‐Izquierdo, Ana; Martín, Miguel Ángel; Arenas, Joaquín; Martínez‐Azorín, Francisco Journal: Human mutation Issue: Volume 34:Issue 12(2013:Dec.) Page Start: 1623 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗