(Q43198013)

15 November 2017

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

1 reference

15 November 2017

1 reference

Jytte Bieber Nielsen

1

1 reference

15 November 2017

Karin E Nielsen

series ordinal

2

1 reference

15 November 2017

Flemming Güttler

series ordinal

3

1 reference

15 November 2017

language of work or name

1 reference

1 February 2010

1 reference

Journal of Inherited Metabolic Disease

15 November 2017

1 reference

15 November 2017

33

1 reference

15 November 2017

1

1 reference

15 November 2017

9-16

1 reference

https://scigraph.springernature.com/pub.10.1007/s10545-009-9002-0

15 November 2017

0 references

cites work

Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin

1 reference

12 December 2020

Large neutral amino acids supplementation in phenylketonuric patients.

1 reference

12 December 2020

The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

1 reference

12 December 2020

Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene

1 reference

12 December 2020

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

1 reference

12 December 2020

Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment

1 reference

12 December 2020

Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test

1 reference

12 December 2020

Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations

1 reference

12 December 2020

Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria

1 reference

12 December 2020

Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency.

1 reference

12 December 2020

Biopterin responsive phenylalanine hydroxylase deficiency

1 reference

12 December 2020

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

1 reference

12 December 2020

Defining tetrahydrobiopterin (BH4)-responsiveness in PKU.

1 reference

12 December 2020

A microplate-based enzymatic assay for the simultaneous determination of phenylalanine and tyrosine in serum

1 reference

12 December 2020

Pharmacokinetics of tetrahydrobiopterin following oral loadings with three single dosages in patients with phenylketonuria.

1 reference

12 December 2020

Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: assessing responsiveness in a model of statistical process control.

1 reference

12 December 2020

Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration

1 reference

12 December 2020

Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype

1 reference

12 December 2020

The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: evaluation of response and subsequent treatment

1 reference

12 December 2020

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

1 reference

12 December 2020

Dietary management practices in phenylketonuria across European centres

1 reference

12 December 2020

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

1 reference

12 December 2020

Response of patients with phenylketonuria in the US to tetrahydrobiopterin.

1 reference

12 December 2020

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria

1 reference

12 December 2020

Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin

1 reference

12 December 2020

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

1 reference

12 December 2020

Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency

1 reference

12 December 2020

The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency

1 reference

12 December 2020

In vitro expression of 34 naturally occurring mutant variants of phenylalanine hydroxylase: correlation with metabolic phenotypes and susceptibility toward protein aggregation

1 reference

12 December 2020

Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients

1 reference

12 December 2020

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

1 reference

12 December 2020

Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype

1 reference

12 December 2020

A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria

1 reference

12 December 2020

10.1007/S10545-009-9002-0

Identifiers

DOI

1 reference

Dimensions Publication ID

15 November 2017

0 references

1 reference