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    • Mutational and phenotypic analysis of hyperphenylalaninaemia in Southern Ireland 

      O'Donnell, Kate (Trinity College (Dublin, Ireland). School of Biochemistry and Immunology, 2000)
      Phenylketonuria (PKU) is the most common inherited defect of amino acid metabolism in the Irish population occurring at a frequency of 1/4,500 live births. It is caused by a deficiency of the hepatic enzyme Phenylalanine ...