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

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

Abstract 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...

Full description

Bibliographic Details
Main Authors: Shuai Men, Shuang Liu, Qin Zheng, Shuting Yang, Huafen Mao, Zhiwei Wang, Ying Gu, Xinxin Tang, Leilei Wang
Format: Article
Language:English
Published: Wiley 2023-06-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
IEM
MS/MS
NBS
targeted massively parallel sequencing
Online Access:https://doi.org/10.1002/mgg3.2152

Internet

https://doi.org/10.1002/mgg3.2152

Similar Items