Tetrahydrobiopterin, its Mode of Action on Phenylalanine Hydroxylase, and Importance of Genotypes for Pharmacological Therapy of Phenylketonuria-Reference-Cited by-同舟云学术

Tetrahydrobiopterin, its Mode of Action on Phenylalanine Hydroxylase, and Importance of Genotypes for Pharmacological Therapy of Phenylketonuria

Published:2013-05-01 Issue:7 Volume:34 Page:927-936
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Heintz Caroline¹,Cotton Richard G.H.²,Blau Nenad¹³⁴

Affiliation:

1. University Children's Hospital; Zürich Switzerland

2. Human Variome Project; Carlton South Victoria Australia

3. Zürich Center for Integrative Human Physiology (ZIHP); Zürich Switzerland

4. University Children's Hospital; Heidelberg Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference114 articles.

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2. Compound heterozygosity in nonphenylketonuria hyperphenylalanemia: the contribution of mutations for classical phenylketonuria;Avigad;Am J Hum Genet,1991

3. Mechanism of dioxygen cleavage in tetrahydrobiopterin-dependent amino Acid hydroxylases;Bassan;Chemistry,2003

4. High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: A study of 1919 patients observed from 1988 to 2002;Bernegger;Mol Genet Metab,2002

5. Influence of phenylalanine intake on phenylketonuria;Bickel;Lancet,1953

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