engleski

Fabry Disease - A Diagnostic and Therapeutic Problem

The authors present a patient with Fabry syndrome that remained undiagnosed for several years. Fabry syndrome is a genetic disease related to changes on the X chromosome. Its complex clinical presentation and diverse symptomatology is caused by deficient activity of lysosomal hydrolase alpha-galactosidase enzyme.

Fabry disease; diagnosis; replacement therapy; synthetic enzyme

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