Article
Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations.
Human mutation - 1 Jan 2000
Hennermann J B, Vetter B, Wolf C, Windt E, Bührdel P, Seidel J, Mönch E, Kulozik A E
Abstract excerpt
Phenylketonuria (PKU) is an important error of amino acid metabolism which results in most patients from phenylalanine hydroxylase (PAH) deficiency. PKU displays a marked genotypic heterogeneity both within and between different populations. The aim of this study was to establish the genotypic spectrum of PKU in eastern Germany, and to compare this to the distribution of mutations in western Germany. The study...
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