New evidence for assessing tetrahydrobiopterin (BH4) responsiveness-Reference-Cited by-同舟云学术

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New evidence for assessing tetrahydrobiopterin (BH4) responsiveness

Published:2012-12 Issue:12 Volume:61 Page:1809-1816
ISSN:0026-0495
Container-title:Metabolism
language:en
Short-container-title:Metabolism

Author:

Bueno María A.,Lage Sergio,Delgado Carmen,Andrade Fernando,Couce María L.,González-Lamuño Domingo,Pérez Manuel,Aldámiz-Echevarría Luis

Publisher

Elsevier BV

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Reference35 articles.

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

2. Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence;Enns;Mol Genet Metab,2010

3. Phenylketonuria;Blau;Lancet,2010

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

5. Tetrahydrobiopterin deficiencies in hyperphenylalaninemia;Niederwieser,1985

Cited by 14 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. Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy;Molecular Genetics and Metabolism;2023-11

2. Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG);Genetics in Medicine;2023-09

3. Protein Substitute Requirements of Patients with Phenylketonuria on BH4 Treatment: A Systematic Review and Meta-Analysis;Nutrients;2021-03-23

4. The phenylketonuria-associated substitution R68S converts phenylalanine hydroxylase to a constitutively active enzyme but reduces its stability;Journal of Biological Chemistry;2019-03

5. Molecular epidemiology, genotype–phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria;Journal of Human Genetics;2016-04-28

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