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The Importance of Ophthalmic Examination in Initial Diagnostic Process of Xanthoma: Two Case Reports and Literature Review of Cerebrotendinous Xanthomatosis
Background: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease where deficiency of sterol 27-hydroxylase leads to reduced production of CDCA. In such cases, life expectancy is only 4–6 decades, with progressive neurologic dysfunction such as dementia and spinal cord paresis,...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2021
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089857/ http://dx.doi.org/10.1210/jendso/bvab048.638 |