Associated Papers
The pathogenicity of variant c.597dup in SLC19A3 and treatability of its phenotype remain unconfirmed.
Finsterer J et al.
Arquivos De Neuro-psiquiatria, 2024
Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants.
Aburezq M et al.
Orphanet Journal of Rare Diseases, 2023
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
Early Infantile Leigh-like SLC19A3 Gene Defects Have a Poor Prognosis: Report and Review.
Alfadhel M
Journal of Central Nervous System Disease, 2017
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