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Article

Structural studies on phenylalanine hydroxylase and implications toward understanding and treating phenylketonuria.

Pediatrics - 1 Dec 2003

Erlandsen Heidi, Patch Marianne G, Gamez Alejandra, Straub Mary, Stevens Raymond C

Abstract excerpt

Mutations in the gene encoding for phenylalanine hydroxylase (PAH) result in phenylketonuria (PKU) or hyperphenylalaninemia (HPA). Several 3-dimensional structures of truncated forms of PAH have been determined in our laboratory and by others, using x-ray crystallographic techniques. These struct...

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Source

Identifiers

PMID: 14654665

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14654665-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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