Title : Treatable Leigh-like encephalopathy presenting in adolescence.

Pub. Date : 2013 Oct 7

PMID : 24099834






1 Functional Relationships(s)
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1 A rare genetic defect of thiamine transporter-2 may lead to similar clinical features, biotin-thiamine responsive basal ganglia disease (BTBGD). Biotin solute carrier family 19 member 3 Homo sapiens