Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations-Reference-Cited by-同舟云学术

Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations

Published:2004-09-30 Issue:5 Volume:24 Page:388-399
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Pey Angel L.,Pérez Belén,Desviat Lourdes R.,Martínez Ma Angeles,Aguado Cristina,Erlandsen Heidi,Gámez Alejandra,Stevens Raymond C.,Thórólfsson Matthías,Ugarte Magdalena,Martínez Aurora

Funder

Ministerio de Sanidad y Consumo

Comisión Interministerial de Ciencia y Tecnología, Spain

Research Council of Norway

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference43 articles.

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2. Crystal structure of the ternary complex of the catalytic domain of human phenylalanine hydroxylase with tetrahydrobiopterin and 3-(2-thienyl)-L-alanine, and its implications for the mechanism of catalysis and substrate activation;Andersen;J Mol Biol,2002

3. Partial characterization and three-dimensional-structural localization of eight mutations in exon 7 of the human phenylalanine hydroxylase gene associated with phenylketonuria;Bjørgo;Eur J Biochem,1998

4. Tetrahydrobiopterin deficiency: from genotype to phenotype;Blau;Pteridines,1994

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