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Fabry disease is a rare X-linked deficiency of alpha-galactosidase A (alphagal), which causes glycosphingolipid accumulation. This study analysed the cardiovascular manifestations of a cohort of Fabry patients, and sought to define relationships between disease severity, alphagal activity, and cardiac abnormalities.

Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and -galactosidase A activity