An unusually mild case of biotin-thiamine-responsive basal ganglia disease

BACKGROUND: Biotin-Thiamine-Responsive Basal Ganglia Disease (BTBGD) is a treatable neurometabolic condition associated with pathogenic variants in the SLC19A3 gene. The classical childhood-onset phenotype presents at a mean age of 4 years, ranging from birth to 12 years. These patients present with...

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Detalles Bibliográficos
Autores principales: Lail, Gurnoor, Blaser, Susan, Inbar-Feigenberg, Michal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10694770/
http://dx.doi.org/10.1016/j.ymgmr.2023.101004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10694770/
http://dx.doi.org/10.1016/j.ymgmr.2023.101004

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