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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...

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Detalles Bibliográficos
Autores principales: Majumdar, Shamaita, Salamon, Noriko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
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