Explanipedia

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

Gorka Fernández‐Eulate, Gilles C. Martin, P. Dureau, Claude Speeg-Spatz, Anaïs Brassier , et al. · 2022

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 com…

Prospective Cholestanol Screening of Cerebrotendinous Xanthomatosis Among Patients With Juvenile-onset Unexplained Bilateral Cataracts Open

Gorka Fernández‐Eulate, Gilles C. Martin, P. Dureau, Claude Speeg-Spatz, Anaïs Brassier , et al. · 2022

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 com…

Corneal Keloid in Lowe Syndrome Open

Gilles C. Martin, Marc Putterman, P. Dureau · 2022

Immunomodulatory treatment and surgical management of idiopathic uveitis and juvenile idiopathic arthritis-associated uveitis in children: a French survey practice Open

Julie Molimard, Christine Pajot, Priscille Ollé, Alexandre Bélot, Pierre Quartier , et al. · 2021

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies Open

Fabiola Ceroni, Domingo Aguilera‐Garcia, Nicolas Chassaing, Dorine A. Bax, Fiona Blanco‐Kelly , et al. · 2018

PEDIATRIC PENETRATING OPEN-GLOBE INJURIES:WHICH PROGNOSIS FOR WHICH MANAGEMENT? Open

Timsit Aurelie, A Clément, Sabine Derrien, Maya Benali Abdallah, P. Dureau , et al. · 2016

Clinical presentation and management of Familial Exudative Vitreoretinopathy Open

Ismaël Chehaibou, A Clément, F. Metge, C. Edelson, A. Affortit , et al. · 2016

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