Early treatment of biotin–thiamine–responsive basal ganglia disease improves the prognosis

BACKGROUND: Biotin–thiamine–responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder associated with pathogenic variants in SLC19A3 gene. The clinical picture includes symptoms of subacute encephalopathy (e.g. confusion, dysphagia, dysarthria, and seizures), which r...

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Detalles Bibliográficos
Autores principales: Wesół-Kucharska, Dorota, Greczan, Milena, Kaczor, Magdalena, Pajdowska, Magdalena, Piekutowska-Abramczuk, Dorota, Ciara, Elżbieta, Halat-Wolska, Paulina, Kowalski, Paweł, Jurkiewicz, Elżbieta, Rokicki, Dariusz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8488057/
https://www.ncbi.nlm.nih.gov/pubmed/34631424
http://dx.doi.org/10.1016/j.ymgmr.2021.100801

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8488057/
https://www.ncbi.nlm.nih.gov/pubmed/34631424
http://dx.doi.org/10.1016/j.ymgmr.2021.100801

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