Increased liver tests and hepatomegaly: Is there an increased prevalence of Gaucher disease in this population?

Elkilic O, Laeremans H, Lasser L, Mboti F
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Abstract

The screening was performed using a dried bloodspot on Whatman paper 906. The enzymes were measured with a LC-MS-MS method according to the protocol of CDC (Centre of disease control and prevention). The method was validated for stability of the enzymes in the dried blood spot and variability. All runs were controlled with external controls from CDC and blanc correction was adapted. Cut-off values were 3 umol/l/h has been proposed and used by the reference center.
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肝检查增加和肝肿大:戈谢病在这一人群中的患病率是否增加?
使用Whatman 906纸上的干血点进行筛选。酶的测定采用LC-MS-MS法,按照美国疾病控制与预防中心的规程进行。验证了该方法在干血斑中酶的稳定性和变异性。所有运行均采用CDC的外部控制,并采用blanc校正。截止值为3umol /l/h,已被参考中心采用。
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