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GLUT1 Deficiency Syndrome—Early Treatment Maintains Cognitive Development? (Literature Review and Case Report)

Glucose transporter type 1 (GLUT1) is the most important energy carrier of the brain across the blood–brain barrier, and a genetic defect of GLUT1 is known as GLUT1 deficiency syndrome (GLUT1DS). It is characterized by early infantile seizures, developmental delay, microcephaly, ataxia, and various...

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Detalles Bibliográficos
Autores principales: Kolic, Ivana, Radic Nisevic, Jelena, Vlasic Cicvaric, Inge, Butorac Ahel, Ivona, Lah Tomulic, Kristina, Segulja, Silvije, Baraba Dekanic, Kristina, Serifi, Senada, Ovuka, Aleksandar, Prpic, Igor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8472230/
https://www.ncbi.nlm.nih.gov/pubmed/34573360
http://dx.doi.org/10.3390/genes12091379