Screening for six Mediterranean mutations in 90 Egyptian patients with phenylketonuria.
Effat L K, Essawi M L, Abd El Hamid M S, +2 more·Bratislavske lekarske listy
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…