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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Genes (Basel)
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: MDPI 2020
Aiheet:
Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7824641/
https://ncbi.nlm.nih.gov/pubmed/33375644
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12010020
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