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Journal of Inherited Metabolic Disease|January 5, 2025
Biological Basis of Cell Trafficking: A General OverviewHelena Gimeno-Agud, Yaiza Díaz-Osorio, Alfonso OyarzábalTrends in Genetics : TIG|April 3, 2022
Genetic disorders of cellular traffickingAngeles García-Cazorla, Alfonso Oyarzábal, Jean-Marie Saudubray, et al.Oxidative Medicine and Cellular Longevity|May 11, 2018
Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and HomocystinuriaEva Richard, Lorena Gallego-Villar, Ana Rivera-Barahona, et al.Journal of Inherited Metabolic Disease|January 22, 2025
Spermidine Recovers the Autophagy Defects Underlying the Pathophysiology of Cell Trafficking DisordersYaiza Díaz-Osorio, Helena Gimeno-Agud, Rosanna Mari-Vico, et al.Journal of Translational Medicine|October 26, 2023
Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndromeUliana Musokhranova, Cristina Grau, Cristina Vergara, et al.American Journal of Medical Genetics. Part A|September 15, 2019
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup diseaseNishitha R Pillai, Delia Yubero, Brian J Shayota, et al.Journal of Inherited Metabolic Disease|November 7, 2023
Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmissionSofía Illescas, Yaiza Diaz-Osorio, Anna Serradell, et al.Brain : a Journal of Neurology|February 2, 2023
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screeningTrine Tangeraas, Juliana R Constante, Paul Hoff Backe, et al.Journal of Medical Genetics|May 17, 2023
Expanding the phenotypic spectrum of <i>TRAPPC11-</i>related muscular dystrophy: 25 Roma individuals carrying a founder variantMaria Justel, Cristina Jou, Andrea Sariego-Jamardo, et al.Brain : a Journal of Neurology|February 21, 2024
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized studyNatalia Juliá-Palacios, Mireia Olivella, Mariya Sigatullina Bondarenko, et al.Pageof 1