Screening for six Mediterranean mutations in 90 Egyptian patients with phenylketonuria.

@article{Effat2008ScreeningFS,
  title={Screening for six Mediterranean mutations in 90 Egyptian patients with phenylketonuria.},
  author={Laila Kamal El-Din Effat and Mona Lotfi Essawi and Mohamed Abd El Hamid and Nabeha S A Hawari and Yehia Zakaria Gad},
  journal={Bratislavske lekarske listy},
  year={2008},
  volume={109 1},
  pages={17-9}
}
OBJECTIVES The aim of this study is to assess the prevalence of six common mutations in the Mediterranean basin and Turkey among a large group of Egyptian PKU cases BACKGROUND Phenylketonuria (PKU) is one of the most common inborn errors of amino acid metabolism that is caused by deficiency of hepatic phenylalanine hydroxylase (PAH). This deficiency is attributed to more than 528 mutations in the PAH gene. METHODS Ninety unrelated patients with PKU (180 alleles) were screened for six… CONTINUE READING