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Is 5-Oxoprolinase Deficiency More than Just a Benign Condition?

Çiğdem Seher Kasapkara1, Oya Kıreker Köylü2, Ayşenur Engin Erdal2

  • 1Department of Pediatric Metabolic Diseases, Ankara Bilkent City Hospital, Faculty of Medicine, Ankara Yıldırım Beyazıt University, Ankara, Turkey.

Molecular Syndromology
|August 12, 2024
PubMed
Abstract

Keywords:
5-oxoprolineDevelopmental delayEpilepsyMacrocephalyOPLAH gene

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