A Case of Ataxia with Isolated Vitamin E Deficiency Initially Diagnosed as Friedreich's Ataxia

Ataxia with isolated vitamin E deficiency (AVED) is a rare autosomal recessive condition that is caused by a mutation in the alpha tocopherol transfer protein gene. It is almost indistinguishable clinically from Friedreich's ataxia but with appropriate treatment its devastating neurological fea...

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Detalles Bibliográficos
Autores principales: Bonello, Michael, Ray, Partha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4771890/
https://www.ncbi.nlm.nih.gov/pubmed/26989534
http://dx.doi.org/10.1155/2016/8342653

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4771890/
https://www.ncbi.nlm.nih.gov/pubmed/26989534
http://dx.doi.org/10.1155/2016/8342653

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