Prevalence of Cerebrotendinous Xanthomatosis Among Patients Diagnosed With Acquired Juvenile-Onset Idiopathic Bilateral Cataracts

IMPORTANCE: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive bile acid synthesis disorder caused by mutations in CYP27A1, the gene encoding sterol 27-hydroxylase, which results in elevated levels of plasma cholestanol and urinary bile alcohols. Clinical symptoms and signs may inclu...

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Detalhes bibliográficos
Publicado no:JAMA Ophthalmol
Main Authors: Freedman, Sharon F., Brennand, Charlotte, Chiang, John, DeBarber, Andrea, Del Monte, Monte A., Duell, P. Barton, Fiorito, John, Marshall, Randall
Formato: Artigo
Idioma:Inglês
Publicado em: American Medical Association 2019
Assuntos:
Brief Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6753501/
https://ncbi.nlm.nih.gov/pubmed/31536098
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaophthalmol.2019.3639
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