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Expanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese population

30 Sept 2022

Abstract excerpt

Tandem mass spectrometry (MS/MS) has been developed as one of the most important diagnostic platforms for the early detection and screening of inherited metabolic disorders (IMDs). To determine the disease spectrum and genetic characteristics of IMDs in Suqian city of Jiangsu province in the northern Chinese population, dried blood spots from 2,04,604 newborns, were assessed for IMDs by MS/MS from January 2016 to...

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PMID: 36246604
DOI: 10.3389/fgene.2022.801447

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