Clinical and genetic study of ataxia with vitamin E deficiency: A case report

BACKGROUND: Ataxia with vitamin E deficiency (AVED) is a type of autosomal recessive cerebellar ataxia. Clinical manifestations include progressive cerebellar ataxia and movement disorders. TTPA gene mutations cause the disease. CASE SUMMARY: We report the case of a 32-year-old woman who presented w...

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Detalles Bibliográficos
Autores principales: Zhang, Lin-Wei, Liu, Bing, Peng, Dan-Tao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9403667/
https://www.ncbi.nlm.nih.gov/pubmed/36159513
http://dx.doi.org/10.12998/wjcc.v10.i23.8271

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9403667/
https://www.ncbi.nlm.nih.gov/pubmed/36159513
http://dx.doi.org/10.12998/wjcc.v10.i23.8271

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