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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

Ataxia with isolated vitamin E deficiency: a clinical, biochemical and genetic diagnosis.

A case of ataxia with isolated vitamin E deficiency, in conjunction with supportive genetic studies, is reported. This is a neurodegenerative condition that involves a mutation in the tocopherol (alpha) transfer protein gene (TTPA). Measurement of serum vitamin E concentration should be included as part of the investigations in children with progressive ataxia, even in the absence of fat malabsorption. Early treatment with vitamin E may protect such patients against further neurological damage.[1]

References

  1. Ataxia with isolated vitamin E deficiency: a clinical, biochemical and genetic diagnosis. Alex, G., Oliver, M.R., Collins, K.J. Journal of paediatrics and child health. (2000) [Pubmed]
 
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