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...

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Detalles Bibliográficos
Autores principales: Logel, Santhi N., Connor, Ellen L., Hsu, David A., Fenske, Rachel J., Paloian, Neil J., De Vivo, Darryl C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Study
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

Internet

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

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