Hyperautofluorescent Dots are Characteristic in Ceramide Kinase Like-associated Retinal Degeneration

There is a lack of studies which seek to discern disease expression in patients with mutations that alter retinal ceramide metabolism, specifically in the ceramide kinase like (CERKL) gene. This cross-sectional case series reports a novel phenotypic manifestation of CERKL-associated retinopathy. Fou...

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Publicado no:Sci Rep
Main Authors: Sengillo, Jesse D., Cho, Galaxy Y., Paavo, Maarjaliis, Lee, Winston, White, Eugenia, Jauregui, Ruben, Sparrow, Janet R., Allikmets, Rando, Tsang, Stephen H.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6351646/
https://ncbi.nlm.nih.gov/pubmed/30696906
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-37578-4
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