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Article

Effect of BH(4) supplementation on phenylalanine tolerance.

Journal of inherited metabolic disease - 1 Feb 2009

Burlina A, Blau N

Abstract excerpt

BACKGROUND: Tetrahydrobiopterin (BH(4)) is a potential new orphan drug for the treatment of some patients with phenylketonuria (PKU), mostly mild forms. Numerous studies have confirmed this finding and BH(4)-responsiveness may be predicted to some extent from the corresponding genotype. AIM: To investigate the response to BH(4) loading test, the phenylalanine hydroxylase (PAH) mutations and the long-term...

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Source

Identifiers

PMID: 19067227
DOI: 10.1007/s10545-008-0947-1

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Effect of BH(4) supplementation on phenylalanine tolerance.PMID 19067227Read ↗

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