Cargando…

Clinical Variability of GLUT1DS

Investigators from Pavia, Rho, Brescia and Milan, Italy, studied 22 patients diagnosed with GLUT1 deficiency syndrome (GLUT1DS) to document clinical or genetic differences between patients with familial SLC2A1 gene mutations (n=11) and those with sporadic mutations (n=11).

Detalles Bibliográficos
Autores principales: Melnikova, Anastasia Martinez-Esteve, Korff, Christian M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pediatric Neurology Briefs Publishers 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4747289/
https://www.ncbi.nlm.nih.gov/pubmed/26933557
http://dx.doi.org/10.15844/pedneurbriefs-29-2-5