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Article

Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis.

Molecular genetics and metabolism - 1 Jul 2012

Zimmermann M, Jacobs P, Fingerhut R, Torresani T, Thöny B, Blau N, Baumgartner M R, Rohrbach M

Abstract excerpt

Until today, the mainstay of phenylketonuria (PKU) treatment is a phenylalanine (Phe)-restricted diet. Strict dietary treatment decreases flexibility and autonomy and still has a major impact on patients and their families. Compliance is often poor, particularly in adolescence. The aim of this st...

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Source

Identifiers

PMID: 22607939
DOI: 10.1016/j.ymgme.2012.04.016

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22607939-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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