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

Abstract 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 op...

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Bibliographic Details
Main Authors: Judy Fan, Brent L. Fogel
Format: Article
Language:English
Published: BMC 2018-10-01
Series:Cerebellum & Ataxias
Subjects:
Online Access:http://link.springer.com/article/10.1186/s40673-018-0091-0