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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

2023-08-13

Abstract excerpt

<h4>Background</h4> Fabry disease (FD) is a rare X-linked lysosomal storage disorder that affects multiple organs including the heart. In this study, we investigated if early-stage globotriaosylceramide (Gb3) accumulation, before occurrence of inclusion bodies, could cause significant stress and irreversible damages of the cardiomyocytes in FD patients. <h4>Methods</h4> Immunofluorescent (IF) staining was performe...

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Literature Corpus work: e0e8fdd7-82d5-546f-85d5-dbff3483f280
DOI: 10.1101/2023.08.07.23293800

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