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Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7‐year study in eastern coastal areas of China

14 Feb 2023

Abstract excerpt

BACKGROUND: The incidence of inborn errors of metabolism (IEM) varies across countries and areas. Currently, there are no studies on IEM using newborn screening (NBS) in eastern coastal areas of China. We aimed to estimate the incidence and genetic variants of IEM and understand the spectrum of diseases caused by IEM and variants among them in this area. METHODS: The NBS performed by tandem mass spectrometry...

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PMID: 36787440
DOI: 10.1002/mgg3.2152

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