Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review

Overview of attention for article published in Frontiers in Genetics, July 2021

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Derivation of two iPSC lines (KAIMRCi004-A, KAIMRCi004-B) from a Saudi patient with Biotin-Thiamine-responsive Basal Ganglia Disease (BTBGD) carrying homozygous pathogenic missense variant in the SCL19A3 gene

Article in Human Cell (July 2024)

Substrate transport and drug interaction of human thiamine transporters SLC19A2/A3

Preprint in Research Square (June 2024)

Efficacy of high thiamine dosage in treating patients with biotin thiamine responsive basal ganglia disease: a two case reports

Article in International Journal of Neuroscience (May 2024)

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