Article
Molecular genetics and diagnosis of phenylketonuria: state of the art.
Expert review of molecular diagnostics - 1 Jul 2014
Blau Nenad, Shen Nan, Carducci Carla
Abstract excerpt
Detection of individuals with phenylketonuria (PKU), an autosomal recessively inherited disorder in phenylalanine degradation, is straightforward and efficient due to newborn screening programs. A recent introduction of the pharmacological treatment option emerged rapid development of molecular testing. However, variants responsible for PKU do not all suppress enzyme activity to the same extent. A spectrum of...
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