Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts

BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder related to CYP27A1 biallelic mutations, leading to decreased synthesis of bile acids and increased cholestanol. Juvenile bilateral cataracts are one of the most common findings in the disease, frequently occurring before the...

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Detalles Bibliográficos
Autores principales: Fernández-Eulate, Gorka, Martin, Gilles C., Dureau, Pascal, Speeg-Spatz, Claude, Brassier, Anais, Gillard, Perrine, Bremond-Gignac, Dominique, Thouvenin, Dominique, Pagan, Cecile, Lamari, Foudil, Nadjar, Yann
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9749289/
https://www.ncbi.nlm.nih.gov/pubmed/36514115
http://dx.doi.org/10.1186/s13023-022-02591-4

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