THE FEATURES OE CLINICAL AND LABORATORY DIAGNOSIS OF FABRY DISEASE

The aim of the study was to determine the clinical features and molecular genetic patterns of patients with Fabry disease (FD) to optimize the diagnostic stepwise. Object and methods. The comparison of clinical features was performed and the activity of lysosomal enzyme a–galactosidase A in the peripheral blood leukocyte homogenate was studied in 120 male with the neuropathic pain or acroparesthesia who contacted the Center of Orphan...