Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency

Ocular manifestations of cobalamin C deficiency include a developmental as well as a degenerative phenotype and lack strict correlation to metabolic status, but may be mitigated by prenatal or early treatment. PURPOSE: To explore the ocular manifestations of cobalamin C (cblC) deficiency, an inborn...

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Publicado en:Ophthalmology
Main Authors: Brooks, Brian P., Thompson, Amy H., Sloan, Jennifer, Manoli, Irini, Carrillo-Carrasco, Nuria, Zein, Wadih M., Venditti, Charles P.
Formato: Artigo
Idioma:Inglês
Publicado: 2016
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5065014/
https://ncbi.nlm.nih.gov/pubmed/26825575
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ophtha.2015.10.041
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