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Article

Combined genetic screening and traditional biochemical screening to optimize newborn screening systems.

Clinica chimica acta; international journal of clinical chemistry - 1 Mar 2022

Wang Xin, Wang Yan-Yun, Hong Dong-Yang, Zhang Zhi-Lei, Li Ya-Hong, Yang Pei-Ying, Sun Yun, Jiang Tao, Xu Zheng-Feng

Abstract excerpt

Newborn screening can detect around 40 different diseases based on biochemical indicators and has resulted in the improved quality of life for children suffering from genetic diseases. However, NBS is limited as it does not cover all genetic diseases in newborns and has high rates of false positives and negatives. Genetic screening can be used to address the shortcomings of traditional biochemical screening,...

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PMID: 35085585
DOI: 10.1016/j.cca.2022.01.015

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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