A hypothesis on the biochemical mechanism of BH4-responsiveness in phenylalanine hydroxylase deficiency

No abstract is available for this paper.

• Publication year

  2003

• Venue

  Amino Acids

• Publication date

  2003-03-17

• Fields of study

  Medicine, Chemistry

• Identifiers
  DOI 10.1007/s00726-002-0354-0PMID 12836060
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Successful treatment of phenylketonuria with tetrahydrobiopterin

  2001cited by this paper
• A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria

  2001cited by this paper
• The role of chaperone-assisted folding and quality control in inborn errors of metabolism: Protein folding disorders

  2001cited by this paper
• Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates

  2001cited by this paper
• Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype.

  2001cited by this paper
• PAHdb: A locus‐specific knowledgebase

  2000cited by this paper
• Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

  1999cited by this paper
• Phenylketonuria mutations in Germany

  1999cited by this paper
• The structural basis of phenylketonuria.

  1999cited by this paper
• A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.

  1998cited by this paper
• Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.

  1997cited by this paper
• The role of phenylalanine in structure-function relationships of phenylalanine hydroxylase revealed by radiation target analysis.

  1997cited by this paper
• Structure-function relationships of phenylalanine hydroxylase revealed by radiation target analysis.

  1996cited by this paper
• Regulation of rat liver phenylalanine hydroxylase. III. Control of catalysis by (6R)-tetrahydrobiopterin and phenylalanine.

  1994cited by this paper
• Ligand effects on the phosphorylation state of hepatic phenylalanine hydroxylase.

  1984cited by this paper

• Determination of Phenylalanine and Tyrosine by High Performance Liquid Chromatography-Tandem Mass Spectrometry.

  2016cites this paper
• Sapropterin dihydrochloride for phenylketonuria.

  2015cites this paper
• Assessment of tetrahydrobiopterin (BH(4))-responsiveness and spontaneous phenylalanine reduction in a phenylalanine hydroxylase deficiency population.

  2012cites this paper
• Group education for children with phenylketonuria

  2012cites this paper
• Sapropterin dihydrochloride for phenylketonuria.

  2012cites this paper
• Sapropterin dihydrochloride for phenylketonuria.

  2010cites this paper
• Molecular genetics of tetrahydrobiopterin‐responsive phenylalanine hydroxylase deficiency

  2008cites this paper
• Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria.

  2007cites this paper
• Assessment of Tetrahydrobiopterin (BH 4) Responsiveness in Phenylketonuria

  2007cites this paper
• Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders.

  2006cites this paper
• The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency

  2006cites this paper
• The time has come: a new scene for PKU treatment.

  2006cites this paper
• Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency

  2006cites this paper
• Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin.

  2005cites this paper
• Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations

  2004cites this paper
• Tetrahydrobiopterin responsiveness in patients with phenylketonuria.

  2004influential citation
• Biopterin responsive phenylalanine hydroxylase deficiency

  2004cites this paper
• Biopterin responsive phenylalanine hydroxylase

  2004cites this paper
• Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype.

  2004cites this paper
• Methodes et compositions pour le traitement des troubles du metabolisme

  2004cites this paper