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Mild hyperphenylalaninemia
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Disease definition
A rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by blood phenylalanine (Phe) concentrations of 120-600 micromol/L with or without clinical manifestations of impaired cognitive function, and behavioral and developmental disorders.
ORPHA:79651
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- Research project(s) (55)
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Newborn screening
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