Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases

Published 2013 View Full Article

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Title
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases
Authors
Keywords
Biotin-responsive basal ganglia disease, Biotin, Thiamine, SLC19A3, Encephalopathy, Neurometabolic
Journal
Orphanet Journal of Rare Diseases
Volume 8, Issue 1, Pages 83
Publisher
Springer Nature
Online
2013-06-06
DOI
10.1186/1750-1172-8-83
References
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