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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Bibliographic Details
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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