(Q46952232)

26 December 2017

title

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. (English)

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26 December 2017

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9

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26 December 2017

author name string

Marcel R Zurflüh

1

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26 December 2017

Johannes Zschocke

2

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26 December 2017

Martin Lindner

3

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26 December 2017

François Feillet

4

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26 December 2017

Céline Chery

5

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26 December 2017

Alberto Burlina

6

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26 December 2017

Raymond C Stevens

7

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26 December 2017

Beat Thöny

8

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26 December 2017

publication date

1 January 2008

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26 December 2017

published in

Human Mutation

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26 December 2017

volume

29

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26 December 2017

issue

1

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26 December 2017

page(s)

167-175

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26 December 2017

A hypothesis on the biochemical mechanism of BH(4)-responsiveness in phenylalanine hydroxylase deficiency.

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BH4 responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor

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

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

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

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Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria

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

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

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7 January 2021

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

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7 January 2021

Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype–phenotype correlations in phenylketonuria

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7 January 2021

Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations

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7 January 2021

Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

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Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

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7 January 2021

Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy.

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7 January 2021

The V388M Mutation Results in a Kinetic Variant Form of Phenylalanine Hydroxylase

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7 January 2021

The molecular basis of phenylketonuria in Koreans

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7 January 2021

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

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7 January 2021

Response of patients with phenylketonuria in the US to tetrahydrobiopterin.

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7 January 2021

Tetrahydrobiopterin-responsive phenylketonuria: the New South Wales experience

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7 January 2021

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria

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7 January 2021

Tetrahydrobiopterin responsiveness in patients with phenylketonuria.

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7 January 2021

Kinetic and stability analysis of PKU mutations identified in BH4-responsive patients

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7 January 2021

Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations

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7 January 2021

Stimulation of hepatic phenylalanine hydroxylase activity but not Pah-mRNA expression upon oral loading of tetrahydrobiopterin in normal mice

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7 January 2021

PAHdb 2003: what a locus-specific knowledgebase can do.

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7 January 2021

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

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7 January 2021

Phenylketonuria mutations in Northern China

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7 January 2021

Efficiency of long-term tetrahydrobiopterin monotherapy in phenylketonuria

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7 January 2021

Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia

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7 January 2021

Successful treatment of phenylketonuria with tetrahydrobiopterin

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7 January 2021

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

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7 January 2021

In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function

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7 January 2021

Phenylketonuria mutations in Germany

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7 January 2021

Phenylketonuria mutations in Europe

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20637

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26 December 2017

PubMed ID

17935162

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26 December 2017