The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?

Karen Anjema, Floris C. Hofstede, Annet M. Bosch, Estela Rubio-Gozalbo, Maaike C. de Vries, Carolien C. A. Boelen, Margreet van Rijn, Francjan J. van Spronsen

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Article number10
JournalOrphanet Journal of Rare Diseases
Volume11
DOIs
Publication statusPublished - 29 Jan 2016

Keywords

  • Phenylketonuria
  • PKU
  • Tetrahydrobiopterin
  • BH4
  • Neonate

Cite this

Anjema, K., Hofstede, F. C., Bosch, A. M., Rubio-Gozalbo, E., de Vries, M. C., Boelen, C. C. A., van Rijn, M., & van Spronsen, F. J. (2016). The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value? Orphanet Journal of Rare Diseases, 11, [10]. https://doi.org/10.1186/s13023-016-0394-2