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Article

Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings.

Journal of inherited metabolic disease - 1 Feb 2002

Lässker U, Zschocke J, Blau N, Santer R

Abstract excerpt

We report two new patients with tetrahydrobiopterin (BH4)-responsive phenylketonuria and compare their phenylalanine hydroxylase (PAH) genotypes (A395P/ IVS12+g>a and R261Q/165T, respectively) to those of previous cases from the literature. These case observations confirm earlier reports stating that BH4-responsive patients are frequently carriers of a missense mutation within the DNA region coding for the...

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PMID: 11999982
DOI: 10.1023/a:1015194002487

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PAH

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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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