Glucose Transporter Type 1 Deficiency Syndrome: Developmental Delay and Early-Onset Ataxia in a Novel Mutation of the SLC2A1 Gene

Glucose transporter type 1 deficiency syndrome (GLUT1-DS) was first described by De Vivo in 1991, and the classic clinical manifestations include infantile epilepsy, developmental delay, and acquired microcephaly. A neurological complex disorder including elements of hypotonia, spasticity, ataxia, a...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:J Pediatr Neurosci
Autores principales: Messana, Tullio, Russo, Angelo, Vergaro, Raffaella, Boni, Antonella, Santucci, Margherita, Pini, Antonella
Formato: Artigo
Lenguaje:Inglês
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6413611/
https://ncbi.nlm.nih.gov/pubmed/30937099
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/JPN.JPN_169_17
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares