Biotin-thiamine responsive basal ganglia disease in the era of COVID-19 outbreak diagnosis not to be missed: A case report

BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTRBGD) is a rare treatable autosomal recessive neurometabolic disorder characterized by progressive encephalopathy that eventually leads to severe disability and death if not treated with biotin and thiamine. BTRBGD is caused by mutation...

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Detalles Bibliográficos
Autores principales: Al-Anezi, Ayed, Sotirova-Koulli, Vania, Shalaby, Osama, Ibrahim, Ahmed, Abdulmotagalli, Nehad, Youssef, Ramy, Hossam El-Din, Mohamed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Child Neurology. Published by Elsevier B.V. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8696467/
https://www.ncbi.nlm.nih.gov/pubmed/34953623
http://dx.doi.org/10.1016/j.braindev.2021.12.003

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8696467/
https://www.ncbi.nlm.nih.gov/pubmed/34953623
http://dx.doi.org/10.1016/j.braindev.2021.12.003

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