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METHODS OF DETECTING ADENOSINE DEAMINASE DEFICIENCY
METHODS OF DETECTING ADENOSINE DEAMINASE DEFICIENCY
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机译：检测腺苷脱氨酶缺乏症的方法
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摘要
Disclosed are new approaches to detecting adenosine deaminase (ADA) deficiency. There is provided a method of determining ADA activity, comprising: dividing a sample obtained from blood into two portions, adding an ADA inhibitor to one portion, measuring levels of ADA activity in both portions, and determining the ADA activity. Also provided is a method of measuring ADA substrate, comprising: measuring an ADA substrate in a sample obtained from blood of subject, and comparing this to at least one control sample obtained from blood and comprising an ADA inhibitor, and a known quantity of the ADA substrate. Multiplexed methods of measuring ADA enzymatic activity along with other metabolic markers are also provided. The methods are particularly useful for the analysis of samples obtained from dried blood spots (DBSs), and may be incorporated into existing newborn screening programs. Associated diagnostic methods, control samples, and apparatuses are also disclosed.
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