Comprehensive analysis of 1103 infants referred to a single center due to positive newborn screening test for phenylketonuria
This comprehensive analysis underscores the need to enhance NBS programs, particularly in regions with identified delays. Improving healthcare infrastructure, increasing awareness, and implementing targeted health policies are crucial for timely diagnosis and treatment. Future research should address regional disparities and optimize screening protocols to improve outcomes for affected infants.
Authors
- Serap Sivri (ORCID: https://orcid.org/0000-0001-8260-9984)
- Ayça Burcu Kahraman (ORCID: https://orcid.org/0000-0002-9563-0296)
- Ayşegül Tokatlı (ORCID: https://orcid.org/0000-0003-2812-9319)
- Yılmaz Yıldız (ORCID: https://orcid.org/0000-0001-9076-1388)
- Kısmet Çıkı (ORCID: https://orcid.org/0000-0002-6800-8848)
- Turgay Coşkun (ORCID: https://orcid.org/0000-0001-9589-0445)
- Ali Dursun (ORCID: https://orcid.org/0000-0003-1104-9902)
- Begüm Poşul
- Mustafa Güvercin
Institutions
- Hacettepe University (TR)
Publication Details
- Journal
- The Turkish Journal of Pediatrics
- Published
- 2025-05-04
- DOI
- https://doi.org/10.24953/turkjpediatr.2025.5263
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00