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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Detalhes bibliográficos
Publicado no:Intern Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: The Japanese Society of Internal Medicine 2018
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6028668/
https://ncbi.nlm.nih.gov/pubmed/29434128
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2169/internalmedicine.0120-17
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