A Japanese patient with neonatal biotin-responsive basal ganglia disease

Biotin-responsive basal ganglia disease (BBGD) with SLC19A3 mutation was first reported in 1998, and over 30 mutations have been reported. We report a neonatal BBGD case with sudden-onset feeding difficulty and impaired consciousness. Encephalopathy resolved after the initiation of biotin and thiami...

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Detalles Bibliográficos
Autores principales: Kobayashi, Mizuki, Suzuki, Yuichi, Nodera, Maki, Matsunaga, Ayako, Kohda, Masakazu, Okazaki, Yasushi, Murayama, Kei, Yamagata, Takanori, Osaka, Hitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9522647/
https://www.ncbi.nlm.nih.gov/pubmed/36175418
http://dx.doi.org/10.1038/s41439-022-00210-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9522647/
https://www.ncbi.nlm.nih.gov/pubmed/36175418
http://dx.doi.org/10.1038/s41439-022-00210-z

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