[HTML][HTML] Phenylketonuria diagnosis by massive parallel sequencing and genotype-phenotype association in Brazilian patients
RH Tresbach, F Sperb-Ludwig, R Ligabue-Braun…�- Genes, 2020 - mdpi.com
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. Phenotype–genotype correlations
were made based on the BioPKU database. Three patients required additional Sanger�…
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. Phenotype–genotype correlations
were made based on the BioPKU database. Three patients required additional Sanger�…
[PDF][PDF] Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients. Genes 2021, 12, 20
RH Tresbach, F Sperb-Ludwig, R Ligabue-Braun… - 2020 - researchgate.net
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. Phenotype–genotype correlations
were made based on the BioPKU database. Three patients required additional Sanger�…
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. Phenotype–genotype correlations
were made based on the BioPKU database. Three patients required additional Sanger�…