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Article

Tetrahydrobiopterin responsiveness in patients with phenylketonuria.

Clinical biochemistry - 1 Dec 2004

Pérez-Dueñas Belén, Vilaseca Maria Antonia, Mas Anna, Lambruschini Nilo, Artuch Rafael, Gómez Lilian, Pineda Julia, Gutiérrez Alejandra, Mila Montse, Campistol Jaume

Abstract excerpt

OBJECTIVES: To investigate the BH4 response in a group of patients with phenylketonuria (PKU) in order to offer this alternative treatment to the responsive patients. DESIGN AND METHODS: The 24-h-long Phe/BH4 loading test was performed on 64 PKU patients requiring dietary treatment. RESULTS: All patients with mild-PKU and 75% of patients with moderate-PKU were BH4 responsive, while only 11% of classic-PKU...

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Source

Identifiers

PMID: 15589814
DOI: 10.1016/j.clinbiochem.2004.09.005

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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