Title : Are diagnostic magnetic resonance patterns life-saving in children with biotin-thiamine-responsive basal ganglia disease?

Pub. Date : 2018 Nov

PMID : 30054086






1 Functional Relationships(s)
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1 BACKGROUND: Biotin-thiamine responsive basal ganglia disease (BTBGD) is an autosomal recessive disorder caused by mutations in the SLC19A3 gene and characterized by recurrent sub-acute episodes of encephalopathy that typically starts in early childhood. Thiamine solute carrier family 19 member 3 Homo sapiens