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Stress‐Induced Upregulation of SLC19A3 is Impaired in Biotin‐Thiamine‐Responsive Basal Ganglia Disease
Biotin‐thiamine‐responsive basal ganglia disease (BTBGD) is a potentially treatable disorder caused by mutations in the SLC19A3 gene, encoding the human thiamine transporter 2. Manifestation of BTBGD as acute encephalopathy triggered by a febrile infection has been frequently reported, but the under...
Zapisane w:
| Wydane w: | Brain Pathol |
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| Główni autorzy: | , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
John Wiley and Sons Inc.
2014
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8029177/ https://ncbi.nlm.nih.gov/pubmed/24372704 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/bpa.12117 |
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