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...

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Detalles Bibliográficos
Autores principales: Messana, Tullio, Russo, Angelo, Vergaro, Raffaella, Boni, Antonella, Santucci, Margherita, Pini, Antonella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413611/
https://www.ncbi.nlm.nih.gov/pubmed/30937099
http://dx.doi.org/10.4103/JPN.JPN_169_17

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413611/
https://www.ncbi.nlm.nih.gov/pubmed/30937099
http://dx.doi.org/10.4103/JPN.JPN_169_17

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