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Cerebrotendinous xanthomatosis: a rare genetic disorder

A 32-year-old male patient presented with uncontrolled convulsions to the emergency room. He had epilepsy since childhood and was on tablet phenytoin sodium 100 mg three times a day. However, on detailed history elicitation and clinical examination, he was found to have a constellation of findings....

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Detalhes bibliográficos
Main Authors: Bhojwani, Rohan Arjun, Khot, Rajashree
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3176383/
https://ncbi.nlm.nih.gov/pubmed/22679194
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.08.2011.4582
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