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Article

Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience.

Orphanet journal of rare diseases - 8 Feb 2015

Scala Iris, Concolino Daniela, Della Casa Roberto, Nastasi Anna, Ungaro Carla, Paladino Serena, Capaldo Brunella, Ruoppolo Margherita, Daniele Aurora, Bonapace Giuseppe, Strisciuglio Pietro, Parenti Giancarlo, Andria Generoso

Abstract excerpt

BACKGROUND: Phenylketonuria (PKU) is an autosomal recessive disorder caused by the deficiency of phenylalanine hydroxylase that catalyzes the conversion of phenylalanine to tyrosine, using tetrahydrobiopterin (BH4) as coenzyme. Besides dietary phenylalanine restriction, new therapeutic options are emerging, such as the treatment with BH4 in subgroups of PKU patients responding to a loading test with BH4. METHODS:...

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Identifiers

PMID: 25757997
DOI: 10.1186/s13023-015-0227-8
PMCID: PMC4351928

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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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