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