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Amino acid metabolism disorders and PAH gene mutations in Southeastern Anatolia Region
Öz, Özlem; Akbulut, Emiş Deniz; Ercan Karadağ, Müjgan; Gönel, Ataman; Koyuncu, İsmail (De Gruyter, 2021)Objectives Inborn errors of metabolism are generally autosomal recessive inherited disorders. The incidence and genetic features of neonatal metabolic disorders vary significantly by regions and populations. In this study, ...