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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...

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Detalles Bibliográficos
Autores principales: Alabdulqader, Muneera A., Al Hajjaj, Sumayah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2018
Materias:
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