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Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts.
Fernández-Eulate G, Martin GC, Dureau P, Speeg-Spatz C, Brassier A, Gillard P, Bremond-Gignac D, Thouvenin D, Pagan C, Lamari F, Nadjar Y. Fernández-Eulate G, et al. Among authors: speeg spatz c. Orphanet J Rare Dis. 2022 Dec 13;17(1):434. doi: 10.1186/s13023-022-02591-4. Orphanet J Rare Dis. 2022. PMID: 36514115 Free PMC article.