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Article

The first European guidelines on phenylketonuria: Usefulness and implications for BH4 responsiveness testing

10 Sept 2019

Abstract excerpt

Abstract Objective This study aimed to investigate and improve the usefulness of the 48‐hour BH4 loading test and to assess genotype for BH4 responsiveness prediction, using the new definition of BH4 responsiveness from the European guidelines, as well as an amended definition. Method Applying the definition of the European guidelines (≥100% increase in natural protein tolerance) and an amended definition (≥100%...

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PMID: 31503351
DOI: 10.1002/jimd.12173

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