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...

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Bibliografiske detaljer
Udgivet i:Brain Pathol
Main Authors: Schänzer, Anne, Döring, Barbara, Ondrouschek, Michelle, Goos, Sarah, Garvalov, Boyan K., Geyer, Joachim, Acker, Till, Neubauer, Bernd, Hahn, Andreas
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2014
Fag:
Research Articles
Online adgang: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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