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Literature DB >> 12659094

Tetrahydrobiopterin-responsive hyperphenylalaninaemia due to homozygous mutations in the phenylalanine hydroxylase gene.

Abstract

Entities: Chemical Disease Gene

Source DB: PubMed Journal: Eur J Pediatr ISSN： 0340-6199 Impact factor: 3.183

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Authors: F K Trefz; D Scheible; H Götz; G Frauendienst-Egger
Journal: J Inherit Metab Dis Date: 2008-10-30 Impact factor: 4.982

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