(Q46805938)

25 December 2017

title

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

1 reference

25 December 2017

1 reference

1 reference

3

1 reference

25 December 2017

Matthias R Baumgartner

4

1 reference

25 December 2017

Nenad Blau

9

1 reference

25 December 2017

author name string

Betina Fiege

1

1 reference

25 December 2017

Luisa Bonafé

2

1 reference

25 December 2017

Beat Thöny

5

1 reference

25 December 2017

David Meili

6

1 reference

25 December 2017

Laura Fiori

7

1 reference

25 December 2017

Marcello Giovannini

8

1 reference

25 December 2017

publication date

11 November 2005

1 reference

25 December 2017

Molecular Genetics and Metabolism

published in

1 reference

25 December 2017

volume

86 Suppl 1

1 reference

25 December 2017

page(s)

S91-5

1 reference

25 December 2017

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

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.014

Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.014

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.014

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.2005.09.014

Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenyl-alaninemia in Southern Europe

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.014

A simple method for identification of point mutations using denaturing gradient gel electrophoresis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.014

The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.014

Biopterin responsive phenylalanine hydroxylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.014

10.1016/J.YMGME.2005.09.014

7 January 2021

Identifiers

DOI

1 reference

25 December 2017

release_jdvtmlh4xvfrdiis5uzuxptwtq

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/jdvtmlh4xvfrdiis5uzuxptwtq

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

25 December 2017