Associated Papers
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
Proteostasis Modulation in Germline Missense von Hippel Lindau Disease.
Chittiboina P et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Development of a rapid functional assay that predicts GLUT1 disease severity.
Zaman SM et al.
Neurology. Genetics, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
Milder phenotypes of glucose transporter type 1 deficiency syndrome.
Anand G et al.
Developmental Medicine and Child Neurology, 2011
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