Title : Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment.

Pub. Date : 2017 Feb

PMID : 27905264






1 Functional Relationships(s)
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1 BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder caused by mutations in the SLC19A3 gene. Thiamine solute carrier family 19 member 3 Homo sapiens