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- 2016
The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?DOI: 10.1186/s13023-016-0394-2 Keywords: Phenylketonuria, PKU, Tetrahydrobiopterin, BH4, Neonate Abstract: 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
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