Associated Papers
A novel frameshift variant in the SLC2A1 gene causing a mild phenotype of GLUT1 deficiency syndrome: case report.
Sobrinho LMF et al.
Molecular Genetics and Metabolism Reports, 2024
The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review.
Mastrangelo M et al.
European Journal of Pediatrics, 2024
38954008 (PubMed )
Supplement: 431_2024_5657_MOESM2_ESM.xlsx › Valutazione_varianti
A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome.
Gras D et al.
Annals of Neurology, 2017
Select a paper to view details