Unusual phenotype of glucose transport protein type 1 deficiency syndrome: A case report and literature review

The glucose transport protein type 1 (GLUT1) deficit causes a chronic brain energy failure. The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dysto...

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Detalles Bibliográficos
Autores principales: Posar, Annio, Santucci, Margherita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4040030/
https://www.ncbi.nlm.nih.gov/pubmed/24891901
http://dx.doi.org/10.4103/1817-1745.131481

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4040030/
https://www.ncbi.nlm.nih.gov/pubmed/24891901
http://dx.doi.org/10.4103/1817-1745.131481

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