Title : Biotin-Thiamine-Responsive Basal Ganglia Disease in Children: A Treatable Neurometabolic Disorder.

Pub. Date : 2021 Mar-Apr

PMID : 34220059






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1 Biotin-thiamine-responsive basal ganglia disease is a rare, autosomal recessive, treatable, neurometabolic disorder associated with biallelic pathogenic variations in the SLC19A3 gene. Biotin solute carrier family 19 member 3 Homo sapiens