Biotin-Thiamine-Responsive Basal Ganglia Disease: A Case Report
Introduction: Biotin-thiamine responsive basal ganglia disease (BTBGD) is a rare autosomal recessive neurometabolic disorder characterized by diverse and variable phenotypic features, which can make diagnosis challenging. However, prompt treatment with thiamine and biotin can effectively...
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| Main Authors: | Jonathan Tse, Asem Abu-Qamar, Omar Youssef, Sherry L. Pejka |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Karger Publishers
2024-12-01
|
| Series: | Case Reports in Neurology |
| Online Access: | https://karger.com/article/doi/10.1159/000542886 |
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