A Preventable Ataxia: Cerebrotendinous Xanthomatosis

Cerebrotendinous xanthomatosis is an autosomal recessive inborn error of metabolism that is an often missed but treatable cause of hereditary ataxia. We report a case of cerebrotendinous xanthomatosis (CTX) that was diagnosed only after the development of cognitive decline and adult onset ataxia in...

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Detalles Bibliográficos
Autores principales: Shaji, Bhagya, Srikumar, B., Ramachandran, Dileep
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6839296/
https://www.ncbi.nlm.nih.gov/pubmed/31736580
http://dx.doi.org/10.4103/aian.AIAN_126_18

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6839296/
https://www.ncbi.nlm.nih.gov/pubmed/31736580
http://dx.doi.org/10.4103/aian.AIAN_126_18

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