2014•Genetics in MedicineOpen access

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

Jerry E. Vockley, Hans Christer Andersson, Kevin M. Antshel, Nancy Braverman, Barbara K. Burton, Dianne M. Frazier, John J. Mitchell, Wendy E. Smith, Barry H. Thompson, Susan A. Berry

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Key concepts: Phenylalanine hydroxylase, Medicine, Guideline, Phenylalanine, Inborn error of metabolism, Newborn screening, Disease, Population

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