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  1. 2nd European Phenylketonuria Group (EPG) Symposium - Advances and Challenges in PKU

    ... will also be highlighted, both in PKU as well as in tetrahydrobiopterin deficient patients. Furthermore, the workshop sessions ... - Anita MacDonald, UK WORKSHOP 6: Diagnosis of BH4 responsive PKU patients Chairmen: Nenad Blau, Switzerland - Barbara Burton, ...

  2. Frequently Asked Questions about PKU

    ... the brain in PKU patients? What is the importance of tetrahydrobiopterin (BH4) in PKU? What is the mode of BH4 action in PKU ... administration have a characteristic genotype ( BH4 -responsive mutations). How should PKU be followed by professionals? Is ...

  3. 5th European Phenylketonuria Group Symposium 'Advances and Challenges in PKU'

    ... relationship of the pharmacological chaperone tetrahydrobiopterin stabilizing phenylalanine hydroxylase Marta K. Danecka ... Long-term treatment with tetrahydrobiopterin in BH4 -responsive PKU patients: effect on quality of life and cognitive function ...

  4. XXV ESPKU Conference

    ... of supplementing with low doses of sapropterin (BH4) in responsive pregnant women, and it is hoped that this option will soon be ... management from early life throughout adulthood: ruling out tetrahydrobiopterin deficiency, evaluating sapropterin responsiveness, ...