Title : Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis.

Pub. Date : 2021 Dec

PMID : 34631424






1 Functional Relationships(s)
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1 Background: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder associated with pathogenic variants in SLC19A3 gene. Thiamine solute carrier family 19 member 3 Homo sapiens