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Fabry Disease | Hereditary Ocular Diseases
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日期：2024-05-18
Fabry disease is a lysosomal enzyme (alpha-galactosidase A) deficiency resulting in the accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids throughout the body. The signature ocular manifestation is the whorl-like corneal pattern of...看更多
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