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A pilot study of expanded newborn screening for 573 genes related to severe inherited disorders in China: results from 1,127 newborns

1 Sept 2020

Abstract excerpt

Background: Newborn screening (NBS) in China is mainly aimed at detecting biochemical levels of metabolites in the blood, which may generate false-positive/negative results. Current biochemical NBS includes tandem mass spectrometry (MS/MS) screening for metabolites as well as phenylalanine (Phe), thyroid-stimulating hormone (TSH), 17-α-hydroxyprogesterone (17-OHP), and glucose-6-phosphate dehydrogenase (G6PD)...

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Folate and B Vitamins Research
Genomics and Rare Diseases
Metabolism and Genetic Disorders

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33145277
DOI: 10.21037/atm-20-1147

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