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A case report of biotin–thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended?

BACKGROUND: Biotin–thiamine-responsive basal ganglia disease (BTRBGD) is a neurometabolic autosomal recessive (AR) disorder characterized by subacute encephalopathy with confusion, convulsions, dysarthria, and dystonia. The disease is completely reversible if treated early with biotin and thiamine,...

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Detalles Bibliográficos
Autores principales:	Aljabri, Mohammad F., Kamal, Naglaa M., Arif, Moinuddin, AlQaedi, Asrar M., Santali, Enas Y.M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer Health 2016
Materias:	6200
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5059037/ https://www.ncbi.nlm.nih.gov/pubmed/27749535 http://dx.doi.org/10.1097/MD.0000000000004819

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