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Article

Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype.

Molecular genetics and metabolism - 1 May 2001

Lindner M, Haas D, Mayatepek E, Zschocke J, Burgard P

Abstract excerpt

Recently, BH(4)-responsive phenylalanine hydroxylase (PAH) deficiency was reported in patients with specific mutations in the PAH gene, and it was suggested that BH(4) responsiveness may be determined by the respective genotypes. We now report on three patients with PAH deficiency and the same genotype but different responses to standardized BH(4) loading. Our results suggest that BH(4) responsiveness in PAH...

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Source

Identifiers

PMID: 11350190
DOI: 10.1006/mgme.2001.3168

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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