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Article

Newborn Screening for Spinal Muscular Atrophy in China Using DNA Mass Spectrometry

17 Dec 2019

Abstract excerpt

Background: Spinal muscular atrophy (SMA) is the most common neurodegenerative disorder and the leading genetic cause of infant mortality. Early detection of SMA through newborn screening (NBS) is essential to selecting pre-symptomatic treatment and ensuring optimal outcome, as well as, prompting the urgent need for effective screening methods. This study aimed to determine the feasibility of applying an Agena...

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PMID: 31921298
DOI: 10.3389/fgene.2019.01255

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