Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome
Abstract Glut1 deficiency syndrome is caused by SLC2A1 mutations on chromosome 1p34.2 that impairs glucose transport across the blood–brain barrier resulting in hypoglycorrhachia and decreased fuel for brain metabolism. Neuroglycopenia causes a drug‐resistant metabolic epilepsy due to energy deficie...
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| Auteurs principaux: | , , , , , |
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| Format: | article |
| Langue: | EN |
| Publié: |
Wiley
2021
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| Sujets: | |
| Accès en ligne: | https://doaj.org/article/1006b62dddf24bd2aac90a7b32bca90a |
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