(Q44240184)

1 December 2017

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

1 reference

1 December 2017

2

1 reference

1 December 2017

Caroline Bernegger

1

1 reference

1 December 2017

1 December 2002

1 reference

Molecular Genetics and Metabolism

1 December 2017

1 reference

1 December 2017

77

1 reference

1 December 2017

4

1 reference

1 December 2017

304-313

1 reference

Letter: Tetrahydrobiopterin treatment of variant form of phenylketonuria

1 December 2017

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900171-3

7 January 2021

Phenylketonuria variants

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900171-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900171-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900171-3

7 January 2021

Screening for malignant phenylketonuria

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900171-3

7 January 2021

Tetrahydrobiopterin Loading Test in Hyperphenylalaninemia

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900171-3

7 January 2021

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900171-3

7 January 2021

Successful treatment of phenylketonuria with tetrahydrobiopterin

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900171-3

7 January 2021

Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900171-3

7 January 2021

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900171-3

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%2FS1096-7192%2802%2900171-3

7 January 2021

Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900171-3

7 January 2021

Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patients

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900171-3

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%2FS1096-7192%2802%2900171-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900171-3

7 January 2021

Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900171-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900171-3

7 January 2021

Mental illness in mild PKU responds to biopterin

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900171-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900171-3

7 January 2021

10.1016/S1096-7192(02)00171-3

Identifiers

DOI

1 reference

release_zj7difhlvrcxpmpml3pbvbtly4

1 December 2017

1 reference

Fatcat

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

24 November 2022

mapped directly with Wikidata item

PubMed ID

12468276

1 reference

PubMed ID

12468276