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

Abstract 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 be...

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Detalhes bibliográficos

Principais autores:	Gorka Fernández-Eulate, Gilles C. Martin, Pascal Dureau, Claude Speeg-Spatz, Anais Brassier, Perrine Gillard, Dominique Bremond-Gignac, Dominique Thouvenin, Cecile Pagan, Foudil Lamari, Yann Nadjar
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2022-12-01
coleção:	Orphanet Journal of Rare Diseases
Assuntos:	Cataract Cerebrotendinous xanthomatosis Cholestanol Inborn errors of metabolism
Acesso em linha:	https://doi.org/10.1186/s13023-022-02591-4
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