Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype

Karen Anjema*, Margreet van Rijn, Floris C. Hofstede, Annet M. Bosch, Carla E. M. Hollak, Estela Rubio-Gozalbo, Maaike C. de Vries, Mirian C. H. Janssen, Carolien C. A. Boelen, Johannes G. M. Burgerhof, Nenad Blau, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
JournalOrphanet Journal of Rare Diseases
Volume8
Issue number1
DOIs
Publication statusPublished - 10 Jul 2013

Keywords

  • Phenylketonuria
  • PKU
  • Tetrahydrobiopterin
  • Sapropterin dihydrochloride
  • Pharmacological chaperone
  • Genotype
  • Loading test

Cite this