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

CONCLUSION: 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.PMID:36787440 | DOI:10.1002/mgg3.2152
Source: Molecular Medicine - Category: Molecular Biology Authors: Source Type: research