Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses

Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses

Abstract Background The impairment of the hepatic enzyme phenylalanine hydroxylase (PAH) causes elevation of phenylalanine levels in blood and other body fluids resulting in the most common inborn error of amino acid metabolism (phenylketonuria). Persistently high levels of phenylalanine lead to irr...

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Bibliographic Details
Main Authors: Filipa Ferreira, Luísa Azevedo, Raquel Neiva, Carmen Sousa, Helena Fonseca, Ana Marcão, Hugo Rocha, Célia Carmona, Sónia Ramos, Anabela Bandeira, Esmeralda Martins, Teresa Campos, Esmeralda Rodrigues, Paula Garcia, Luísa Diogo, Ana Cristina Ferreira, Silvia Sequeira, Francisco Silva, Luísa Rodrigues, Ana Gaspar, Patrícia Janeiro, António Amorim, Laura Vilarinho
Format: Article
Language:English
Published: Wiley 2021-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
biochemical and genetic findings
haplotypic study
mutation spectrum
phenylketonuria
Portuguese population
Online Access:https://doi.org/10.1002/mgg3.1559

Internet

https://doi.org/10.1002/mgg3.1559

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