(Q45990026)

18 December 2017

title

Response of patients with phenylketonuria in the US to tetrahydrobiopterin. (English)

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18 December 2017

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Raymond C Stevens

6

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author name string

Reuben Matalon

1

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18 December 2017

Kimberlee Michals-Matalon

2

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18 December 2017

Richard Koch

3

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18 December 2017

James Grady

4

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18 December 2017

Stephen Tyring

5

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18 December 2017

publication date

6 September 2005

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18 December 2017

Molecular Genetics and Metabolism

published in

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18 December 2017

volume

86 Suppl 1

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18 December 2017

page(s)

S17-21

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18 December 2017

Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.024

Gene transfer and expression of human phenylalanine hydroxylase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.024

PAHdb: a locus-specific knowledgebase.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.024

Influence of phenylalanine intake on phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.024

Effect of age at loss of dietary control on intellectual performance and behavior of children with phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.024

National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.024

Proceedings: Atypical phenylketonuria accompanied by a severe progressive neurological illness unresponsive to dietary treatment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.024

Phenylketonuria due to a deficiency of dihydropteridine reductase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.024

Atypical phenylketonuria with normal dihydropteridine reductase activity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.024

Inborn errors of pterin metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.024

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.024

Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.024

Successful treatment of phenylketonuria with tetrahydrobiopterin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.024

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.024

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.024

Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.024

Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.024

Biopterin responsive phenylalanine hydroxylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.024

Trends in enzyme therapy for phenylketonuria.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.024

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.024

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.024

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.024

10.1016/J.YMGME.2005.06.024

7 January 2021

Identifiers

DOI

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18 December 2017

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18 December 2017