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Article

Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene.

Pediatric research - 1 Mar 2004

Shintaku Haruo, Kure Shigeo, Ohura Toshihiro, Okano Yoshiyuki, Ohwada Misao, Sugiyama Naruji, Sakura Nobuo, Yoshida Ichiro, Yoshino Makoto, Matsubara Yoichi, Suzuki Ken, Aoki Kikumaro, Kitagawa Teruo

Abstract excerpt

A novel therapeutic strategy for phenylketonuria (PKU) has been initiated in Japan. A total of 12 patients who met the criteria for tetrahydrobiopterin (BH(4))-responsive hyperphenylalaninemia (HPA) with a mutant phenylalanine hydroxylase (PAH) (EC 1.14.16.1) gene were recruited at 12 medical centers in Japan between June 1995 and July 2001. Therapeutic efficacy of BH(4) was evaluated in single-dose, four-dose,...

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PMID: 14681498
DOI: 10.1203/01.PDR.0000111283.91564.7E

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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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