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Article

Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations.

European journal of pediatrics - 1 Jul 2002

Steinfeld Robert, Kohlschütter Alfried, Zschocke Johannes, Lindner Martin, Ullrich Kurt, Lukacs Zoltan

Abstract excerpt

The effect of tetrahydrobiopterin (BH(4)) administration was studied in three infants with BH(4) responsive phenylalanine hydroxylase (PAH) deficiency by correlating different BH(4) doses with plasma phenylalanine levels under defined protein intake.

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12174822
DOI: 10.1007/s00431-002-0966-0

Genes

PAH

Provenance

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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Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations.PMID 12174822Read ↗

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Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria.Semantic proximity Read ↗

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