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- W2384291875 abstract "Objective:To investigate the screening value of tandem mass spectrometry in neonatal screening for genetic metabolic diseases.Method:32 252 newborns of Huiyang district in Huizhou city from November 2010 to January 2013 were selected as the research objects,all newborns received genetic screening for metabolic diseases by tandem mass spectrometry,and the disease characteristics,clinical outcomes of the confirmed cases were followed up and analyzed.Result:A total of tandem mass spectrometry screening of 270 cases were positive,including 11 cases diagnosed as neonatal genetic metabolic diseases,the diagnosis rate was 4.07%.Among them,6 cases of amino acid metabolism,organic acid metabolism in 3 cases,fatty acid metabolism in 2 cases,the rate of the diagnosis and treatment was 100%.Conclusion:Tandem mass spectrometry for newborn screening for inherited metabolic diseases with high sensitivity and specificity,it is conducive to early screening and diagnosis for the inherited metabolic diseases." @default.
- W2384291875 created "2016-06-24" @default.
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- W2384291875 date "2015-01-01" @default.
- W2384291875 modified "2023-09-25" @default.
- W2384291875 title "The Clinical Research on Tandem Mass Spectrometry in Neonatal Screening for Genetic Metabolic Diseases" @default.
- W2384291875 hasPublicationYear "2015" @default.
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