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Article

Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia.

Early human development - 1 Sept 2008

Feillet François, Chery Céline, Namour Fares, Kimmoun Antoine, Favre Elisabeth, Lorentz Elisabeth, Battaglia-Hsu Shyue-Fang, Guéant Jean-Louis

Abstract excerpt

BACKGROUND: The outcome in phenylketonuria is related to the early diagnosis and management due to neonatal screening. AIMS: To assess the interest of tetrahydrobiopterin (BH4) loading test and phenylalanine hydroxylase (PAH) genotyping in the management of neonates with hyperphenylalaninemia (HPA). STUDY DESIGN: We evaluate the effectiveness of a BH4 loading test (20 mg/kg) in ten neonates screened for HPA. We...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18321666
DOI: 10.1016/j.earlhumdev.2008.01.003

Genes

PAH

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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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