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Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report
BACKGROUND: Cerebrotendinous xanthomatosis is a very rare autosomal recessive lipid storage disorder affecting bile acid biosynthesis. It is manifested by subtle neurological and non-neurological symptoms due to abnormal tissue lipid deposition. Diagnosis is usually delayed but early diagnosis and r...
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Publicado no: | J Med Case Rep |
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Main Authors: | , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
BioMed Central
2016
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4837582/ https://ncbi.nlm.nih.gov/pubmed/27094915 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13256-016-0882-y |
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