Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art

This publication has 21 references indexed in Scilit:

• Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations
  European Journal of Pediatrics, 2002
• Tetrahydrobiopterin Responsiveness in Phenylketonuria. Two New Cases and a Review of Molecular Genetic Findings
  Journal of Inherited Metabolic Disease, 2002
• Tetrahydrobiopterin-Responsive Phenylalanine Hydroxylase Deficiency: Possible Regulation of Gene Expression in a Patient with the Homozygous L48S Mutation
  Molecular Genetics and Metabolism, 2002
• Tetrahydrobiopterin‐responsive phenylalanine hydroxylase deficiency in Dutch neonates
  Journal of Inherited Metabolic Disease, 2001
• Tetrahydrobiopterin Responsiveness in Phenylketonuria Differs between Patients with the Same Genotype
  Molecular Genetics and Metabolism, 2001
• Successful treatment of phenylketonuria with tetrahydrobiopterin
  European Journal of Pediatrics, 2001
• Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
  The Journal of Pediatrics, 1999
• Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997
  European Journal of Pediatrics, 1999
• A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype
  American Journal of Human Genetics, 1998
• Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test
  European Journal of Pediatrics, 1993