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Prevalence of inherited metabolic disorders among newborns in Zhuzhou, a southern city in China

6 Feb 2024

Abstract excerpt

Background and aims: Defective enzymes, cofactors, or transporters of metabolic pathways cause inherited metabolic disorders (IMDs), a group of genetic disorders. Several IMDs have serious consequences for the affected neonates. Newborn screening for IMDs is conducted by measuring specific metabolites between 3 and 7 days of life. Herein, we analyzed the incidence, spectrum, and genetic characteristics of IMDs in...

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PMID: 38380423
DOI: 10.3389/fgene.2024.1197151

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