A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies

GLUT1 Deficiency Syndrome (GLUT1-DS) is a rare and potentially treatable neurometabolic condition, caused by a reduced glucose transport into the brain and clinically characterized by an epileptic encephalopathy with movement disorders. A wide inter-intrafamilial phenotypic variability has been repo...

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Detalles Bibliográficos
Autores principales: Musumeci, Olimpia, Ferlazzo, Edoardo, Rodolico, Carmelo, Gambardella, Antonio, Gagliardi, Monica, Aguglia, Umberto, Toscano, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7324651/
https://www.ncbi.nlm.nih.gov/pubmed/32655480
http://dx.doi.org/10.3389/fneur.2020.00514

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7324651/
https://www.ncbi.nlm.nih.gov/pubmed/32655480
http://dx.doi.org/10.3389/fneur.2020.00514

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