Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene

Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive, inborn disruption in bile acid synthesis characterized by severe systemic xanthomas, cataracts and neurological injuries occurring before adolescence without elevation of the serum cholesterol or triglyceride levels. CTX is caused...

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Detalles Bibliográficos
Autores principales: Sasamura, Akari, Akazawa, Satoru, Haraguchi, Ai, Horie, Ichiro, Ando, Takao, Abiru, Norio, Takei, Hajime, Nittono, Hiroshi, Une, Mizuho, Kurosawa, Takao, Murai, Tsuyoshi, Naruse, Hiromu, Nakayama, Tomohiro, Kotani, Kazuhiko, Remaley, Alan T., Kawakami, Atsushi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028668/
https://www.ncbi.nlm.nih.gov/pubmed/29434128
http://dx.doi.org/10.2169/internalmedicine.0120-17

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