%0 Journal Article
%T The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?
%A Annet M. Bosch
%A Carolien C.A. Boelen
%A Floris C. Hofstede
%A Francjan J. van Spronsen
%A Karen Anjema
%A M. Estela Rubio¨CGozalbo
%A Maaike C. de Vries
%A Margreet van Rijn
%J Archive of "Orphanet Journal of Rare Diseases".
%D 2016
%R 10.1186/s13023-016-0394-2
%X It is unknown whether the neonatal tetrahydrobiopterin (BH4) loading test is adequate to diagnose long-term BH4 responsiveness in PKU. Therefore we compared the predictive value of the neonatal (test I) versus the 48-h BH4 loading test (test II) and long-term BH4 responsiveness
%K Phenylketonuria
%K PKU
%K Tetrahydrobiopterin
%K BH4
%K Neonate
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731980/