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- W2330330173 abstract "Objectives: to review the diagnostic criteria, emphasize the importance of early treatment and speculate on the neurodevelopmental consequences of diminished glucose transport across the blood-brain barrier (BBB). Glut 1 DS was first recognized in 1991 as a potentially treatable cause of delayed neurological development and infantile-onset epilepsy. Mutations in the responsible GLUT1 gene on chromosome 1 were reported in 1998. Fifteen years after the original description of the clinical syndrome several different phenotypes have emerged, an animal model has been developed, and the efficacy of the ketogenic diet as treatment has been established. Glut 1 DS can serve as a model for brain energy failure during early development." @default.
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- W2330330173 date "2006-01-01" @default.
- W2330330173 modified "2023-10-16" @default.
- W2330330173 title "GLUCOSE TRANSPORTER TYPE I DEFICIENCY SYNDROME (GLUT 1 DS)" @default.
- W2330330173 doi "https://doi.org/10.1055/s-2006-945540" @default.
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