GLUT1 deficiency syndrome: A case report with a novel SLC2A1 mutation

GLUT1 deficiency syndrome: A case report with a novel SLC2A1 mutation

Introduction. GLUT1 deficiency syndrome (GLUT1 DS, OMIM 606777) is a metabolic brain disorder caused by mutations in SLC2A1 gene (chromosome 1) encoding glucose transporter type 1 located on blood-brain membrane. The “classic” phenotype in children includes early onset generalized farmacoresistant e...

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Bibliographic Details
Main Authors: Ivančević Nikola, Cerovac Nataša, Nikolić Blažo, Čuturilo Goran, Marjanović Ana, Branković Marija, Novaković Ivana
Format: Article
Language:English
Published: Military Health Department, Ministry of Defance, Serbia 2019-01-01
Series:Vojnosanitetski Pregled
Subjects:
glut1 deficiency syndrome
diagnosis
diet ketogenic
treatment outcome
Online Access:http://www.doiserbia.nb.rs/img/doi/0042-8450/2019/0042-84501700120I.pdf

Internet

http://www.doiserbia.nb.rs/img/doi/0042-8450/2019/0042-84501700120I.pdf

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