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Peng-Cheng Ji

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Review Open access Aug 2026

Clinical manifestations, diagnosis, and management of renal involvement in Fabry disease

Abstract Fabry disease is an X-linked hereditary lysosomal storage disease caused by variants in the GLA gene. These variants result in reduced or absent α-galactosidase A (α-Gal A) enzyme activity, leading to the progressive accumulation of enzyme metabolism substrates in multiple organs. This accumulation ultimately...

Wen-Kai Guo, Jing-Ru Bi, Peng-Cheng Ji et al. · 0 citations

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