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

ConclusionThis 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.

Source: Molecular Genetics & Genomic Medicine - February 14, 2023 Category: Genetics & Stem Cells Authors: Shuai Men, Shuang Liu, Qin Zheng, Shuting Yang, Huafen Mao, Zhiwei Wang, Ying Gu, Xinxin Tang, Leilei Wang Tags: ORIGINAL ARTICLE Source Type: research