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Article

Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype.

Molecular genetics and metabolism - 1 Jan 2000

Desviat Lourdes R, Pérez Belén, Bèlanger-Quintana Amaya, Castro Margarita, Aguado Cristina, Sánchez Ascensión, García Maria José, Martínez-Pardo Mercedes, Ugarte Magdalena

Abstract excerpt

Tetrahydrobiopterin (BH4) responsiveness in patients with mutations in the phenylalanine hydroxylase (PAH) gene is a recently recognized subtype of hyperphenylalaninemia characterized by a positive BH4 loading test. According to recent estimates, this phenotype may be quite common, suggesting tha...

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Source

Identifiers

PMID: 15464430
DOI: 10.1016/j.ymgme.2004.06.007

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15464430-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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