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A SCREENING METHOD FOR CEREBROTENDINOUS XANTHOMATOSIS USING BILE ALCOHOL GLUCURONIDES AND METABOLITE RATIOS
A SCREENING METHOD FOR CEREBROTENDINOUS XANTHOMATOSIS USING BILE ALCOHOL GLUCURONIDES AND METABOLITE RATIOS
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机译:胆汁葡萄糖醛酸和代谢物比值筛查脑黄体病的方法
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摘要
The invention relates to a method of diagnosing or screening for 27 -hydroxylase (CYP27A1) deficiency in an animal comprising: determining in a biological sample the intensity signal by mass analysis of at least a bile alcohol glucuronide and a C24- or C27-bile acid or a conjugate thereof, comparing the intensity signals to a control sample or control value, and determining 27-hydroxylase (CYP27A1) deficiency based on said comparison.
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