Challenging the Conventional Treatment Initiation Paradigm: Early Detection of Irreversible Cellular Damage in Cardiac Biopsies of Fabry Disease Before the Formation of Gb3 Inclusion Bodies
Chung‐Lin Lee, Pei-Sin Chen, Yu‐Ying Lu, Ching‐Tzu Yen, Chun-Ying Huang, Yen‐Fu Cheng, Shuan-Pei Lin, Chia‐Lin Hsu, Yun-Ru Chen, Dau‐Ming Niu
This study shows that cardiac biopsies from Fabry disease patients exhibit significant cellular stress and irreversible damage before Gb3 inclusion bodies form, suggesting earlier treatment initiation is needed.
medRxiv · Aug 7, 2023 · PreprintGenetic & Genomic Medicine