Associated Papers
Structural basis of thiamine transport and drug recognition by SLC19A3.
Gabriel F et al.
Nature Communications, 2024
39358356 (PubMed )
Supplement: 41467_2024_52872_MOESM1_ESM.pdf
Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review.
Wang J et al.
Frontiers in Genetics, 2021
34276785 (PubMed )
Supplement: Table_1.XLSX › Summary_of_clinical_and_genetic
Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.
Marcé-Grau A et al.
Journal of Inherited Metabolic Disease, 2019
Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.
Whitford W et al.
Cold Spring Harbor Molecular Case Studies, 2017
Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.
Ortigoza-Escobar JD et al.
Annals of Neurology, 2017
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.
Kevelam SH et al.
Brain : a Journal of Neurology, 2013
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