Article
Mutation analysis in hyperphenylalaninemia patients from South Italy.
Clinical biochemistry - 1 Dec 2013
Trunzo Roberta, Santacroce Rosa, D'Andrea Giovanna, Longo Vittoria, De Girolamo Giuseppe, Dimatteo Claudia, Leccese Angelica, Lillo Vincenza, Papadia Francesco, Margaglione Maurizio
Abstract excerpt
BACKGROUND: Mutations in the gene encoding phenylalanine hydroxylase (PAH, EC 1.14.16.1) are associated with various degrees of hyperphenylalaninemia (HPA), including classical phenylketonuria (PKU). OBJECTIVE: The aim of the study was to determine the mutations responsible for mild forms of HPA and to relate different clinical phenotypes of HPA patients to their PAH genotypes in order to better predict the...
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