Title : Biotin-Responsive Basal Ganglia Disease: Treatable Metabolic Disorder with SLC19A3 Mutation Presenting as Rapidly Progressive Dementia.

Pub. Date : 2022 Mar-Apr

PMID : 35532649






1 Functional Relationships(s)
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1 Background and Aims: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive disorder due to mutations in the SLC19A3-gene, typically seen in early childhood. Thiamine solute carrier family 19 member 3 Homo sapiens