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

被引：0
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作者：
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
机构：
[1] Pitié-Salpêtrière University Hospital,Reference Center for Lysosomal Diseases, Neuro
[2] APHP,Metabolism Unit, Neurology Department
[3] Pitié-Salpêtrière University Hospital,Reference Center for Neuromuscular Diseases, Neuro
[4] APHP,Myology Department
[5] Rothschild Foundation Hospitals,Ophthalmology Department
[6] Nouvel Hôpital Civil - Strasbourg University Hospital,Ophthalmology Department
[7] Necker Enfants Malades University Hospital,Pediatric Department
[8] APHP,Ophthalmology Department, Necker Enfants Malades University Hospital, APHP, INSERM Unit 1138, Team 17, Cordeliers
[9] Paris University,Department of Biochemistry and Molecular Biology, LBMMS
[10] Ophtalmologie Rive Gauche Clinic,Metabolic Biochemistry Unit, Department of Biochemistry of Neurometabolic Diseases
[11] Lyon University Hospital,undefined
[12] Pitié-Salpêtrière University Hospital,undefined
来源：
Orphanet Journal of Rare Diseases | / 17卷
关键词：
Cataract; Cerebrotendinous xanthomatosis; Cholestanol; Inborn errors of metabolism;
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