Summary of investigated parameters and abnormalities as typical for FD.
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Renal parameters: ultrasonography, albumin/creatinine ratio, determination of eGFR. Cardiac parameters: echocardiography, cardiac magnetic resonance imaging (MRI) and electrocardiogram. Neural/cerebral parameters: MRI, neurography and neuropsychologic diagnostics. Reference values: plasma activity >8.0 nmol MU/h/ml; leukocyte activity >33 nmol MU/h/mg protein; lyso-Gb3
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2015-12-02
