(Q35789002)

10 August 2017

1 reference

title

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

1 reference

10 August 2017

Nenad Blau

1

1 reference

10 August 2017

Heidi Erlandsen

series ordinal

2

1 reference

10 August 2017

publication date

1 June 2004

1 reference

Molecular Genetics and Metabolism

10 August 2017

published in

1 reference

10 August 2017

volume

82

1 reference

10 August 2017

issue

2

1 reference

10 August 2017

page(s)

101-111

1 reference

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

10 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

Successful treatment of phenylketonuria with tetrahydrobiopterin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

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.2004.03.006

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.2004.03.006

Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

BH4-sensitive hyperphenylalaninemia: new case and review of literature

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

Recombinant human phenylalanine hydroxylase is a substrate for the ubiquitin-conjugating enzyme system

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

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.2004.03.006

Tetrahydrobiopterin-responsive hyperphenylalaninaemia due to homozygous mutations in the phenylalanine hydroxylase gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

Tetrahydrobiopterin control in phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

Screening for tetrahydrobiopterin deficiency in newborns using dried urine on filter paper

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

Tetrahydrobiopterin Loading Test in Hyperphenylalaninemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

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.2004.03.006

Biopterin responsive phenylalanine hydroxylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

High-dose vitamin therapy stimulates variant enzymes with decreased coenzyme binding affinity (increased K(m)): relevance to genetic disease and polymorphisms

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

Monogenic traits are not simple: lessons from phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

Coordinate regulation of tetrahydrobiopterin turnover and phenylalanine hydroxylase activity in rat liver cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

Tetrahydrobiopterin biosynthesis, regeneration and functions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

Purification and cloning of the GTP cyclohydrolase I feedback regulatory protein, GFRP

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

GTP cyclohydrolase I feedback regulatory protein is expressed in serotonin neurons and regulates tetrahydrobiopterin biosynthesis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

Developmental aspects of pteridine metabolism and relationships with phenylalanine metabolism.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

Analysis of reduced forms of biopterin in biological tissues and fluids

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

Studies on the regulatory properties of the pterin cofactor and dopamine bound at the active site of human phenylalanine hydroxylase.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

Role of human GTP cyclohydrolase I and its regulatory protein in tetrahydrobiopterin metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

Regulation of 6-pyruvoyltetrahydropterin synthase activity and messenger RNA abundance in human vascular endothelial cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

Modulation of inducible nitric oxide synthase mRNA stability by tetrahydrobiopterin in vascular smooth muscle cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

The toxicity of tetrahydrobiopterin: acute and subchronic studies in mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

Neurochemical effects following peripheral administration of tetrahydropterin derivatives to the hph-1 mouse.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

Degeneration of the nigrostriatal pathway and induction of motor deficit by tetrahydrobiopterin: an in vivo model relevant to Parkinson's disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

Self-protection of PC12 cells by 6R-tetrahydrobiopterin from nitric oxide toxicity.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

Protective effects of tetrahydrobiopterin against nitric oxide-induced endothelial cell death

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

PAHdb 2003: what a locus-specific knowledgebase can do.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

The structural basis of phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

Tetrahydrobiopterin and biogenic amine metabolism in the hph-1 mouse.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.006

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2004.03.006

1 reference

10 August 2017

1 reference