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
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.
Kim MJ et al.
Annals of Laboratory Medicine, 2023
36544340 (PubMed )
Supplement: alm-43-3-280-supple.xlsx › Table_S2
Diagnostic Challenges Associated with GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical Features.
Kim H et al.
Yonsei Medical Journal, 2019
The Korean undiagnosed diseases program: lessons from a one-year pilot project.
Kim SY et al.
Orphanet Journal of Rare Diseases, 2019
Impact of pathogenic mutations of the GLUT1 glucose transporter on solute carrier dynamics using ComDYN enhanced sampling.
Mouhib H et al.
F1000research, 2019
Paroxysmal Dyskinesia in Children: from Genes to the Clinic.
Kim SY et al.
Journal of Clinical Neurology (seoul, Korea), 2018
CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome.
Barca E et al.
Jimd Reports, 2016
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