Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria

Eitemau Tebyg

• Using change in plasma phenylalanine concentrations and ability to liberalize diet to classify responsiveness to tetrahydrobiopterin therapy in patients with phenylketonuria
  gan: Singh, Rani H., et al.
  Cyhoeddwyd: (2011)
• Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations
  gan: Erlandsen, Heidi, et al.
  Cyhoeddwyd: (2004)
• Detection of Hepatic Phenylalanine 4-Hydroxylase in Classical Phenylketonuria
  gan: Friedman, Paul A., et al.
  Cyhoeddwyd: (1973)
• An ongoing debate over phenylalanine hydroxylase deficiency in phenylketonuria.
  gan: Scriver, C R
  Cyhoeddwyd: (1998)
• Diagnosis of Phenylketonuria (Phenylalanine Hydroxylase Deficiency, Temporary and Permanent)
  gan: Stephenson, J. B. P., et al.
  Cyhoeddwyd: (1967)