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

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 and charac...

Descripción completa

Detalles Bibliográficos
Autores principales: Bonfim‐Freitas, Pedro E., Andrade, Roseani S., Ribeiro‐dos‐Santos, Ândrea K., Silva, Luiz C. Santana‐da
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10568386/
https://www.ncbi.nlm.nih.gov/pubmed/37421234
http://dx.doi.org/10.1002/mgg3.2224

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10568386/
https://www.ncbi.nlm.nih.gov/pubmed/37421234
http://dx.doi.org/10.1002/mgg3.2224

Ejemplares similares