High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002. (Q44240184)

1 December 2017

title

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

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1 December 2017

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1 December 2017

Caroline Bernegger

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1 December 2017

publication date

1 December 2002

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Molecular Genetics and Metabolism

1 December 2017

published in

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1 December 2017

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1 December 2017

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1 December 2017

page(s)

304-313

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Letter: Tetrahydrobiopterin treatment of variant form of phenylketonuria

1 December 2017

cites work

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Phenylketonuria variants

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Atypical phenylketonuria with defective biopterin metabolism. Monotherapy with tetrahydrobiopterin or sepiapterin, screening and study of biosynthesis in man

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7 January 2021

Dihydropteridine reductase deficiency: non-response to oral tetrahydrobiopterin load test

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7 January 2021

Screening for malignant phenylketonuria

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7 January 2021

Tetrahydrobiopterin Loading Test in Hyperphenylalaninemia

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7 January 2021

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

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7 January 2021

Successful treatment of phenylketonuria with tetrahydrobiopterin

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7 January 2021

Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype

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7 January 2021

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates

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7 January 2021

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

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7 January 2021

Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations.

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7 January 2021

Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patients

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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

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

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7 January 2021

Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes

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7 January 2021

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

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7 January 2021

Mental illness in mild PKU responds to biopterin

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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

10.1016/S1096-7192(02)00171-3

Identifiers

DOI

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release_zj7difhlvrcxpmpml3pbvbtly4

1 December 2017

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/zj7difhlvrcxpmpml3pbvbtly4

24 November 2022

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