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Cardiomyocyte Globotriaosylceramide Accumulation in Adult Male Patients with Fabry Disease and IVS4 + 919G>A GLA Mutation is Progressive with Age and Correlates with Left Ventricular Hypertrophy and Reduced Left Ventricular Ejection Fraction.

Fu-Pang ChangTing-Rong HsuSheng-Che HungShih Hsien SungWen-Chung YuDau-Ming NiuBehzad Najafian
Published in: medRxiv : the preprint server for health sciences (2023)
The unbiased stereological methods introduced in this study unraveled novel relationships between cardiomyocyte structure and important imaging and clinical parameters. These novel tools can help better understand Fabry cardiomyopathy pathophysiology.
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