Yazar "Öz, Özlem" için listeleme
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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, ... -
Investigation of the effects of biotinidase deficiency on plasma cholinesterase activity
Özcan, Mehmet; Öz, Özlem; Ercan, Müjgan (Pamukkale University, 2025)Purpose: Biotinidase deficiency (BD) is a rare autosomal recessive metabolic disorder that impairs the body's ability to recycle biotin, a crucial coenzyme for carboxylase enzymes involved in various metabolic processes. ...
