(Q46290634)

21 December 2017

title

Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria (English)

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21 December 2017

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F K Trefz

1

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21 December 2017

D Scheible

series ordinal

2

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21 December 2017

H Götz

series ordinal

3

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21 December 2017

G Frauendienst-Egger

series ordinal

4

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21 December 2017

publication date

30 October 2008

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21 December 2017

Journal of Inherited Metabolic Disease

published in

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21 December 2017

volume

32

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21 December 2017

issue

1

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21 December 2017

page(s)

22-26

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21 December 2017

https://scigraph.springernature.com/pub.10.1007/s10545-008-0940-8

exact match

0 references

cites work

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

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12 December 2020

Tetrahydrobiopterin responsiveness in patients with phenylketonuria.

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12 December 2020

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

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Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

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12 December 2020

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

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12 December 2020

Co-expression of different subunits of human phenylalanine hydroxylase: Evidence of negative interallelic complementation

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12 December 2020

Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations

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12 December 2020

Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH.

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12 December 2020

Tetrahydrobiopterin-responsive hyperphenylalaninaemia due to homozygous mutations in the phenylalanine hydroxylase gene.

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12 December 2020

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

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12 December 2020

Studies on the phenylalanine hydroxylase system in liver slices

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12 December 2020

Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia

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12 December 2020

[Tetrahydrobiopterin therapy for hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. When and how?]

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12 December 2020

Supporting genotype-phenotype correlation with the rare metabolic diseases database Ramedis.

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12 December 2020

Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration

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12 December 2020

Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings

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12 December 2020

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

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12 December 2020

Response of patients with phenylketonuria in the US to tetrahydrobiopterin.

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12 December 2020

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria

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12 December 2020

The molecular basis of phenylketonuria in Koreans

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12 December 2020

Plasma biopterin levels and tetrahydrobiopterin responsiveness

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12 December 2020

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

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12 December 2020

Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency

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12 December 2020

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

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12 December 2020

Modifier genes convert "simple" Mendelian disorders to complex traits

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12 December 2020

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

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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

Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations

1 reference

12 December 2020

10.1007/S10545-008-0940-8

Identifiers

DOI

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21 December 2017

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21 December 2017