Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria-Reference-Cited by-同舟云学术

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Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria

Published:2012-09 Issue:1-2 Volume:107 Page:31-36
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Quirk Meghan E.,Dobrowolski Steven F.,Nelson Benjamin E.,Coffee Bradford,Singh Rani H.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference31 articles.

1. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency;Kure;J. Pediatr.,1999

2. The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response;Staudigl;Hum. Mol. Genet.,2011

3. Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations;Erlandsen;Proc. Natl. Acad. Sci. U. S. A.,2004

4. Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations;Pey;Hum. Mutat.,2004

5. High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002;Bernegger;Mol. Genet. Metab.,2002

Cited by 25 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. PAH Pathogenic Variants and Clinical Correlations in a Group of Hyperphenylalaninemia Patients from North-Western Romania;Diagnostics;2023-04-20

2. An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations;Genes;2021-10-23

3. Genotype‐phenotype correlations and BH 4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil;Molecular Genetics & Genomic Medicine;2019-03-03

4. Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians’ current practices;Orphanet Journal of Rare Diseases;2019-01-08

5. One-year follow-up of B vitamin and Iron status in patients with phenylketonuria provided tetrahydrobiopterin (BH4);Orphanet Journal of Rare Diseases;2018-10-30

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