Biotin-Thiamine-Responsive Basal Ganglia Disease in Children: A Treatable Neurometabolic Disorder

Biotin-thiamine-responsive basal ganglia disease is a rare, autosomal recessive, treatable, neurometabolic disorder associated with biallelic pathogenic variations in the SLC19A3 gene. The condition may present as an early-childhood encephalopathy, an early-infantile lethal encephalopathy with lacti...

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Detalles Bibliográficos
Autores principales: Saini, Arushi G., Sharma, Suvasini
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2021
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8232498/
https://www.ncbi.nlm.nih.gov/pubmed/34220059
http://dx.doi.org/10.4103/aian.AIAN_952_20

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8232498/
https://www.ncbi.nlm.nih.gov/pubmed/34220059
http://dx.doi.org/10.4103/aian.AIAN_952_20

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