FABRY disease
收藏NIAID Data Ecosystem2026-03-13 收录
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资源简介：
Fabry disease occurs due to mutations in the α-galactosidase A (GLA) gene present in the X-chromosome, which results in α-galactosidase A (α-GAL A) enzyme deficiency, leading to the intracellular accumulation of glycosphingolipids like globotriaosylceramide (Gb3). It involves multiorgan dysfunction, particularly affecting kidneys, heart, and central and peripheral nervous system.
创建时间：
2022-07-22
