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Article

Impact of neonatal protein metabolism and nutrition on screening for phenylketonuria.

Journal of pediatric gastroenterology and nutrition - 1 May 2008

Ponzone Alberto, Spada Marco, Roasio Luca, Porta Francesco, Mussa Alessandro, Ferraris Silvio

Abstract excerpt

OBJECTIVES: Early blood phenylalanine (Phe) elevation after birth enables screening for and anticipation of the diagnosis of phenylketonuria. The differential impact of factors involved in this phenomenon, however, has not been elucidated. To solve this question, phenotype, genotype, dietary Phe intake, timing of blood collection, and Phe metabolism were retrospectively analyzed in 21 phenylketonuria newborns and...

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Source

Identifiers

PMID: 18493213
DOI: 10.1097/MPG.0b013e31815eead6

Genes

PAH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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