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Recommendations for the nutrition management of phenylalanine hydroxylase deficiency

2 Jan 2014

Abstract excerpt

The effectiveness of a phenylalanine-restricted diet to improve the outcome of individuals with phenylalanine hydroxylase deficiency (OMIM no. 261600) has been recognized since the first patients were treated 60 years ago. However, the treatment regime is complex, costly, and often difficult to maintain for the long term. Improvements and refinements in the diet for phenylalanine hydroxylase deficiency have been...

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PMID: 24385075
DOI: 10.1038/gim.2013.179

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