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

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 irreversibl...

Descripción completa

Detalles Bibliográficos
Autores principales: Ferreira, Filipa, Azevedo, Luísa, Neiva, Raquel, Sousa, Carmen, Fonseca, Helena, Marcão, Ana, Rocha, Hugo, Carmona, Célia, Ramos, Sónia, Bandeira, Anabela, Martins, Esmeralda, Campos, Teresa, Rodrigues, Esmeralda, Garcia, Paula, Diogo, Luísa, Ferreira, Ana Cristina, Sequeira, Silvia, Silva, Francisco, Rodrigues, Luísa, Gaspar, Ana, Janeiro, Patrícia, Amorim, António, Vilarinho, Laura
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8104178/
https://www.ncbi.nlm.nih.gov/pubmed/33465300
http://dx.doi.org/10.1002/mgg3.1559

Ejemplares similares

Ejemplares similares