2011Molecular Genetics and MetabolismOpen access

Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies

Nenad Blau, Julia B. Hennermann, Ulrich Langenbeck, Uta Lichter‐Konecki

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Key concepts: Hyperphenylalaninemia, Tetrahydrobiopterin, Phenylalanine hydroxylase, Phenylalanine, Phenylketonurias, Newborn screening, Medicine, Neopterin

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