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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

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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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