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

Shuai Men,Shuang Liu,Qin Zheng,Shuting Yang,Huafen Mao,Zhiwei Wang,Ying Gu,Xinxin Tang,Leilei Wang

Molecular genetics & genomic medicine（2023）

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摘要

This study displayed the diseases and varied spectrum of IEM in eastern coastal areas of China. Implementing NBS for IEM by MS/MS combined with massively parallel sequencing can offer an improved plan for NBS to detect IEM.

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关键词

IEM,MS/MS,NBS,targeted massively parallel sequencing

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