3a. Diagnosis


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Beutler E. and Kuhl W., Lancet, 1970

Here is an example of the diagnostic test first discovered by Dr. Ernest Beutler at Scripps Clinic in La Jolla. He developed fluorescent substrate which is essentially glucose which is linked to a fluorescent substrate via beta glucosidase linkage, and the hydrolysis of this fluorescent substrate allows the measurement of the enzyme activity. These are the normal enzyme activity levels shown here, and in Gaucher Disease the enzyme activity is markedly reduced. This is our gold standard for establishing the diagnosis of Gaucher Disease. 

 

 

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