Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients

Phenylketonuria (PKU) is a common inborn error of amino acid metabolism in which the enzyme phenylalanine hydroxylase, which converts phenylalanine to tyrosine, is functionally impaired due to pathogenic variants in the PAH gene. Thirty-four Brazilian patients with a biochemical diagnosis of PKU, fr...

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Detalles Bibliográficos
Autores principales: Tresbach, Rafael Hencke, Sperb-Ludwig, Fernanda, Ligabue-Braun, Rodrigo, Tonon, Tássia, de Oliveira Cardoso, Maria Teresinha, Heredia, Romina Soledad, da Silva Rosa, Maria Teresa Alves, Martins, Bárbara Cátia, Poubel, Monique Oliveira, da Silva, Luiz Carlos Santana, Maillot, François, Schwartz, Ida Vanessa Doederlein
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7824641/
https://www.ncbi.nlm.nih.gov/pubmed/33375644
http://dx.doi.org/10.3390/genes12010020

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