Výsledky vyhledávání - "Vera Anastosoaie"

5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics

Autor: Harvey L. Levy, Deborah Kinch, Jessica Lindenberger, Mark McIlduff, Sarah Hawthorne, Jerry Vockley, Vera Anastosoaie, Diana Lamppu, Albert B. Seymour, Sharon Watling, Kevin DiBona, Jennifer L. Baker

Publikováno v: Molecular genetics and metabolism. 129(3)

Phenylketonuria (PKU) is an autosomal recessive disease caused by mutations in the PAH gene, resulting in deficiency of phenylalanine hydroxylase (PAH), an enzyme that converts phenylalanine (Phe) to tyrosine (Tyr). The purpose of this study was to c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87d379968a69266c6b45eff77dbd43b1
https://pubmed.ncbi.nlm.nih.gov/31883647

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