Molecular characterization of phenylketonuria patients from the North Region of Brazil: State of Pará

Abstract Background Phenylketonuria (PKU) is an autosomal recessive disease resulting from a deficiency of the enzyme phenylalanine hydroxylase (PAH). Hyperphenylalaninemias (HPA) due to PAH deficiency are accompanied by a wide variety of clinical, biochemical, and molecular features. To identify an...

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Bibliographic Details

Published in:	Molecular Genetics & Genomic Medicine
Main Authors:	Pedro E. Bonfim‐Freitas, Roseani S. Andrade, Ândrea K. Ribeiro‐dos‐Santos, Luiz C. Santana‐da Silva
Format:	Article
Language:	English
Published:	Wiley 2023-10-01
Subjects:	genotype‐phenotype north of Brazil pathogenic variants phenylketonuria PKU
Online Access:	https://doi.org/10.1002/mgg3.2224