200 A Case Report of Fabry’s Cardiomyopathy with Superimposed AL Amyloidosis diagnosed by Endomyocardial Biopsy and Electron Microscopic Studies
Waqas Bassar, Nabiha Zaman, Mahek Shah, Shahnila Latif et autres
Abstract Introduction/Objective Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene. Its clinical presentation often overlaps with other multisystem conditions, which delays diagnosis. This case aims to highlight the importance of genetic testing and a …
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American Journal of Clinical Pathology