Title : Biotin Thiamin Responsive Basal Ganglia Disease in Siblings.

Pub. Date : 2018 Feb

PMID : 29101630






1 Functional Relationships(s)
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1 Biotin Thiamine responsive Basal Ganglia Disease (BTBGD) is a rare treatable autosomal recessive metabolic disorder caused by mutations in SLC19A3 gene. Thiamine solute carrier family 19 member 3 Homo sapiens