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Successful treatment of a genetic childhood ataxia due to riboflavin transporter deficiency

BACKGROUND: Riboflavin transporter deficiency (Brown-Vialetto-Van Laere syndrome) is a rare recessive neurodegenerative disorder that can present with gait ataxia, primarily due to sensory neuropathy as well as cerebellar involvement. Although sensorineural hearing loss, bulbar palsy, and optic atro...

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Detalles Bibliográficos
Autores principales:	Fan, Judy, Fogel, Brent L.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6196015/ https://www.ncbi.nlm.nih.gov/pubmed/30377535 http://dx.doi.org/10.1186/s40673-018-0091-0

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