Article
Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients.
Genes - 25 Dec 2020
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
Abstract excerpt
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, from 33 unrelated families, were analyzed through next-generation sequencing in the Ion Torrent PGM™ platform....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.