Cargando…
Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome
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 deficiency. Stan...
| Autores principales: | , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2021
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8607448/ https://www.ncbi.nlm.nih.gov/pubmed/34612610 http://dx.doi.org/10.1002/acn3.51462 |