Ocular manifestations in a patient with de novo Fabry disease

Fabry disease (FD) is an X-linked, recessively inherited, rare, progressive, disorder of glycosphingolipid metabolism affecting multiple organs resulting in organ dysfunction. It is rare to find only one FD affected subject with a de novo mutation. Here we report a case of a 41-year-old Asian male d...

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Bibliographic Details
Main Authors: You Hyun Lee, Kyu Young Shim, Sung Bae Park, Yu Cheol Kim
Format: Article
Language:English
Published: Yeungnam University College of Medicine 2018-12-01
Series:Yeungnam University Journal of Medicine
Subjects:
Online Access:http://yujm.yu.ac.kr/upload/pdf/yujm-2018-35-2-232.pdf