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Biotin-thiamine-responsive basal ganglia disease: A case report
Biotin-Thiamine-Responsive Basal Ganglia Disease is an extremely rare autosomal recessive neurometabolic disorder characterized by recurrent waxing and waning episodes of subacute encephalopathy and seizures. High dose biotin and thiamine administration has been shown to improve symptoms within days...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8717433/ https://www.ncbi.nlm.nih.gov/pubmed/35003475 http://dx.doi.org/10.1016/j.radcr.2021.12.029 |