(Q45089576)

English

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

scientific article published in September 2004

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scholarly article

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Europe PubMed Central

PubMed publication ID

9 December 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

1 reference

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author name string

Shigeo Kure

1

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

Kenichi Sato

2

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

Kunihiro Fujii

3

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

Yoko Aoki

4

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

Yoichi Suzuki

5

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

Seiichi Kato

6

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

Yoichi Matsubara

7

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

publication date

1 September 2004

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Europe PubMed Central

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9 December 2017

Molecular Genetics and Metabolism

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Europe PubMed Central

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9 December 2017

83

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Europe PubMed Central

PubMed publication ID

9 December 2017

1-2

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

150-156

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

Influence of phenylalanine intake on phenylketonuria

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.016

7 January 2021

State-of-the-art 2003 on PKU gene therapy

1 reference

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7 January 2021

Toward PKU enzyme replacement therapy: PEGylation with activity retention for three forms of recombinant phenylalanine hydroxylase

1 reference

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7 January 2021

Reversal of hypopigmentation in phenylketonuria mice by adenovirus-mediated gene transfer

1 reference

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7 January 2021

Long-term correction of hyperphenylalaninemia by AAV-mediated gene transfer leads to behavioral recovery in phenylketonuria mice

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.016

7 January 2021

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.016

7 January 2021

Successful treatment of phenylketonuria with tetrahydrobiopterin

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.016

7 January 2021

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.016

7 January 2021

Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.016

7 January 2021

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.016

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.016

7 January 2021

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.016

7 January 2021

PAHdb: a locus-specific knowledgebase.

1 reference

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7 January 2021

Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.016

7 January 2021

Mental illness in mild PKU responds to biopterin

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.016

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.016

7 January 2021

Biopterin responsive phenylalanine hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.016

7 January 2021

Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patients

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.016

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.016

7 January 2021

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency: possible regulation of gene expression in a patient with the homozygous L48S mutation

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.016

7 January 2021

Monogenic traits are not simple: lessons from phenylketonuria

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.016

7 January 2021

Analysis of reduced forms of biopterin in biological tissues and fluids

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.016

7 January 2021

Biopterin cofactor biosynthesis: GTP cyclohydrolase, neopterin and biopterin in tissues and body fluids of mammalian species

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.016

7 January 2021

The fate of intravenously administered tetrahydrobiopterin and its implications for heterologous gene therapy of phenylketonuria

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.016

7 January 2021

Analysis of phenylalanine hydroxylase genotypes and hyperphenylalaninemia phenotypes using L-[1-13C]phenylalanine oxidation rates in vivo: a pilot study

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.016

7 January 2021

The phenylketonuria mouse model: a meeting review

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.016

7 January 2021

Diagnostic accuracy of the 13C-urea breath test for childhood Helicobacter pylori infection: a multicenter Japanese study.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.016

7 January 2021

Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.016

7 January 2021

Mouse phenylalanine hydroxylase. Homology and divergence from human phenylalanine hydroxylase

1 reference

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7 January 2021

Activation of phenylalanine hydroxylase by phenylalanine

1 reference

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7 January 2021

Identifiers

10.1016/J.YMGME.2004.06.016

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

ResearchGate publication ID

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