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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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| Publicado no: | Cerebellum Ataxias |
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| Principais autores: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6196015/ https://ncbi.nlm.nih.gov/pubmed/30377535 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40673-018-0091-0 |
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