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Article

Phenylketonuria: an update.

Current opinion in pediatrics - 1 Dec 2002

Cederbaum Stephen

Abstract excerpt

Phenylketonuria is a flagship inborn error of metabolism and has been at the forefront of our growing understanding, diagnosis, and treatment of this family of disorders. In this article, the current understanding of its diagnosis, treatment, and complex molecular biology and physiology is reviewed. Recent papers exploring newer and less well-delineated areas of cofactor supplementation and genetic and epigenetic...

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Identifiers

PMID: 12436039
DOI: 10.1097/00008480-200212000-00010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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