Title : Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature.

Pub. Date : 2019 Jun

PMID : 31061755






2 Functional Relationships(s)
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Protein Name
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1 Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature. Biotin solute carrier family 19 member 3 Homo sapiens
2 Biotin-thiamine responsive basal ganglia disease (BTRBGD) is an autosomal recessive neurometabolic disorder with poor genotype-phenotype correlation, caused by mutations in the SLC19A3 gene on chromosome 2q36.6. Biotin solute carrier family 19 member 3 Homo sapiens