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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Detalles Bibliográficos
Autores principales: Razi, Syed Mohd, Gupta, Abhinav Kumar, Gupta, Deepak Chand, Gutch, Manish, Gupta, Keshav Kumar, Usman, Syeda Iqra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4837582/
https://www.ncbi.nlm.nih.gov/pubmed/27094915
http://dx.doi.org/10.1186/s13256-016-0882-y

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