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

Internet

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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