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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H01231 | Biotin-thiamine-responsive basal ganglia disease | ... Symptoms disappear within a few days with the administration of high doses of biotin (5-10 mg/kg/d) and sometimes thiamine. It has been reported that BTBGD is due to mutations in the transporter gene SLC19A3. | Inherited metabolic disorder | SLC19A3 [HSA:80704] [KO:K14610] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |