PREVALENCE OF FABRY DISEASE IN A NATION-WIDE SCREENING PROGRAM OF MALES WITH HYPERTROPHIC CARDIOMYOPATHY
2019
Fabry disease is a rare X-linked storage disorder caused by a deficiency of the enzyme α-galactosidase. Clinical presentation is typically multisystemic, but cerebrovascular complications, renal impairment and heart involvement with hypertophic cardiomyopathy (HCM) are the most serious
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