Glucose transporter type 1 deficiency syndrome: Phenotypes, molecular findings, and ketogenic therapy implementation in Argentina
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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, Glut1DS ... ...
