ListarEpilepsia.artículos por tema "Argentina"

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Glucose transporter type 1 deficiency syndrome : Phenotypes, molecular findings, and ketogenic therapy implementation in Argentina

Armeno, Marisa Laura; Massaro, Mario; Boccoli, Julia; Caballero, Eugenia; Chacon, Santiago; Diz, Mariana; Espeche, Alberto; Fasulo, Lorena; Galarza, Nadia; Gonzalez, Lara; Kobayashi, Virginia; Loos, Mariana; Semprino, Marcos; Veneruzzo, Gabriel; Verini, Antonella; Caraballo, Roberto (John Libbey Eurotext, 2026-02-02)

Objective Glucose transporter type 1 deficiency syndrome (Glut1DS) is a rare metabolic encephalopathy caused by pathogenic SLC2A1 variants. Ketogenic dietary therapy (KDT) is the mainstay of treatment. In Latin America, ...

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