Comprehensive analysis of 1103 infants referred to a single center due to positive newborn screening test for phenylketonuria

Comprehensive analysis of 1103 infants referred to a single center due to positive newborn screening test for phenylketonuria

Objective. Phenylketonuria (PKU) is a prevalent inherited metabolic disorder, resulting from biallelic pathogenic variants in the PAH gene. This study aimed to assess the clinical characteristics of 1103 infants referred to a single center due to positive newborn screening (NBS) tests for PKU, prov...

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Main Authors: Ayça Burcu Kahraman, Kısmet Çıkı, Begüm Poşul, Mustafa Güvercin, Yılmaz Yıldız, Ali Dursun, Serap Sivri, Turgay Coşkun, Ayşegül Tokatlı
Format: Article
Language:English
Published: Hacettepe University Institute of Child Health 2025-05-01
Series:The Turkish Journal of Pediatrics
Subjects:
hyperphenylalaninemia
phenylketonuria
newborn screening
geographic disparities
delayed diagnosis
Online Access:https://turkjpediatr.org/article/view/5263
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