Comparative analysis of inherited metabolic diseases in normal newborns and high-risk children: Insights from a 10-year study in Shanghai

CONCLUSION: There are more clinical cases of congenital metabolic errors diagnosed by tandem mass spectrometry than newborn screening. The spectrum of diseases, prevalence, and genetic characteristics of normal newborns and high-risk children are quite different.PMID:38582244 | DOI:10.1016/j.cca.2024.117893
Source: International Journal of Clinical Chemistry - Category: Chemistry Authors: Source Type: research