(Q45960135)

18 December 2017

title

Long-term treatment with tetrahydrobiopterin in phenylketonuria: treatment strategies and prediction of long-term responders. (English)

1 reference

18 December 2017

1 reference

1 reference

Julia B Hennermann

1

1 reference

18 December 2017

Sylvia Roloff

2

1 reference

18 December 2017

Christine Gebauer

3

1 reference

18 December 2017

Barbara Vetter

4

1 reference

18 December 2017

Annabel von Arnim-Baas

5

1 reference

18 December 2017

Eberhard Mönch

6

1 reference

18 December 2017

publication date

27 September 2012

1 reference

18 December 2017

Molecular Genetics and Metabolism

published in

1 reference

18 December 2017

volume

107

1 reference

18 December 2017

issue

3

1 reference

18 December 2017

page(s)

294-301

1 reference

18 December 2017

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.021

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.021

Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.021

Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.021

Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.021

Long-term follow-up of patients with phenylketonuria receiving tetrahydrobiopterin treatment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.021

Effect of BH(4) supplementation on phenylalanine tolerance

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.021

Tetrahydrobiopterin (BH4) in PKU: effect on dietary treatment, metabolic control, and quality of life

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.021

BH(4) therapy impacts the nutrition status and intake in children with phenylketonuria: 2-year follow-up

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.021

Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.021

High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.021

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.021

The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.021

Recommendations for the use of sapropterin in phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.021

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.021

Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.021

Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.021

Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.021

The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.021

Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: results of a phase 3b study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.021

Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.021

Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.021

Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.021

Heterotetrameric forms of human phenylalanine hydroxylase: co-expression of wild-type and mutant forms in a bicistronic system

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.021

10.1016/J.YMGME.2012.09.021

7 January 2021

Identifiers

DOI

1 reference

18 December 2017

PubMed ID

23062575

1 reference

18 December 2017