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Spinal cerebrotendinous xanthomatosis: A case report and literature review

BACKGROUND: Classic cerebrotendinous xanthomatosis (CTX; OMIM #213700) manifests with chronic diarrhea, juvenile cataracts, tendon xanthomas and neurological symptoms. It is due to biallelic inactivation of CYP27A1 wich leads to cholestanol accumulation in the central nervous system, eyes and tendon...

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Detalles Bibliográficos
Autores principales:	Atallah, Isis, Millán, Diego San, Benoît, Wicki, Campos-Xavier, Belinda, Superti-Furga, Andrea, Tran, Christel
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7890005/ https://www.ncbi.nlm.nih.gov/pubmed/33659184 http://dx.doi.org/10.1016/j.ymgmr.2021.100719

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