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Development of a Sensitive and Specific LC-MS/MS Method for Rapid Diagnosis of Niemann-Pick C Disease

机译:开发敏感和特异性LC-MS / MS方法,用于快速诊断Niemann-Pick C病

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摘要

A rapid LC/MS/MS method has been developed for the determination of Bile Acid B in DBS. The assay exhibited a high degree of sensitivity, precision, and accuracy. Analysis of DBS from 4992 controls, 134 NPC carriers, and 68 NPC subjects provided diagnostic sensitivity of 100% and specificity of 100%.
机译:已经开发了一种快速的LC / MS / MS方法,用于测定DBS中的胆汁酸B.该测定表现出高度灵敏度,精度和准确性。 4992对照的DB分析,134个NPC载体和68个NPC受试者提供了100%和100%特异性的诊断敏感性。

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