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Biotin-Thiamine-Responsive Basal Ganglia Disease: Case Report and Follow-Up of a Patient With Poor Compliance
BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTBGD) 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 supplements. OBJECTIVES: We ai...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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SAGE Publications
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5946631/ https://www.ncbi.nlm.nih.gov/pubmed/29770345 http://dx.doi.org/10.1177/2329048X18773218 |