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Cerebrotendinous xanthomatosis - A case report

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder resulting from a defective enzyme in bile acid synthesis pathway leading to neurological, ocular, vascular, and musculoskeletal symptoms from deposition of cholestanol and cholesterol in these tissues. We present clinical an...

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Detalles Bibliográficos
Autores principales:	Parry, Arshed Hussain, Wani, Abdul Haseeb, Bashir, Muiez, Gojwari, Tariq A
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6857253/ https://www.ncbi.nlm.nih.gov/pubmed/31741606 http://dx.doi.org/10.4103/ijri.IJRI_444_18

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