Medical Science
OPEN ACCESS
Expanded Newborn Screening for Inborn Errors of Metabolism: Perspectives for Uzbekistan
DOI
Crossref DOI
10.37547/tajmspr/Volume07Issue08-10
tajmspr
2025
VOL. 7
/ NO. 8
AUGUST
RESEARCH OVERVIEW
Abstract
Expanded newborn screening (ENS) for inborn errors of metabolism represents a crucial advancement in modern neonatology and public health. While many developed countries have already integrated tandem mass spectrometry into national screening programs, several low- and middle-income countries, including Uzbekistan, are still at the initial stages of implementation [1,6]. This review summarizes the global experience with ENS, highlights the clinical and economic benefits of early detection, and discusses the current state and future perspectives for Uzbekistan [20-22]. Strengthening laboratory capacity, training medical professionals, and developing sustainable policies will be essential for establishing an effective ENS program in the country.
RESEARCH TOPICS
Keywords
Expanded newborn screening
neonatology
pediatrics
inborn errors
tandem mass spectrometry
public health
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