Article
Screening for six Mediterranean mutations in 90 Egyptian patients with phenylketonuria.
Bratislavske lekarske listy - 1 Jan 2008
Effat L K, Essawi M L, Abd El Hamid M S, Hawari N, Gad Y Z
Abstract excerpt
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....
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