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Filiz Ekinci Uğan

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Open access Sep 2026

Spectrum of inherited metabolic disorders diagnosed through newborn screening and symptomatic referrals in Eastern Türkiye

Objective Inherited metabolic disorders (IMDs) are heterogeneous genetic diseases whose observed spectrum is influenced by population characteristics, newborn screening (NBS), and diagnostic pathways.This study aimed to characterize confirmed IMDs diagnosed through NBS and symptomatic referrals at a tertiary center in...

Sezai Arslan, Filiz Ekinci Uğan, O. Yaralı et al. · 0 citations

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