Genomic profiling, implications for genotype-based treatment of 131 patients with phenylketonuria and characterization of novel p.Pro416Leu PAH variant

Genomic profiling, implications for genotype-based treatment of 131 patients with phenylketonuria and characterization of novel p.Pro416Leu PAH variant

Abstract Phenylketonuria (PKU) is the most common inborn disorder of amino acid metabolism caused by biallelic pathogenic variants in phenylalanine hydroxylase (PAH) gene. This study comprised genomic profiling and phenotypic characterization of 131 Serbian PKU patients along with implications for B...

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Bibliographic Details
Main Authors: K. Klaassen, B. Kecman, S. Stankovic, J. Komazec, S. Pavlovic, Maja Stojiljkovic, M. Djordjevic
Format: Article
Language:English
Published: Nature Portfolio 2025-06-01
Series:Scientific Reports
Subjects:
Phenylketonuria
Phenylalanine
Variant
Genotype-phenotype correlation
Therapy
Online Access:https://doi.org/10.1038/s41598-025-04611-2
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