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

Research output: Contribution to journalArticleAcademicpeer-review

11 Citations (Scopus)
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

Anjema, K., van Rijn, M., Hofstede, F. C., Bosch, A. M., Hollak, C. E. M., Rubio-Gozalbo, E., de Vries, M. C., Janssen, M. C. H., Boelen, C. C. A., Burgerhof, J. G. M., Blau, N., Heiner-Fokkema, M. R., & van Spronsen, F. J. (2013). Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype. Orphanet Journal of Rare Diseases, 8(1). https://doi.org/10.1186/1750-1172-8-103