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  1. Differential diagnosis of PKU and BH4 deficiency

    ... the enzyme phenylalanine hydroxylase (PAH) or its cofactor tetrahydrobiopterin (BH4). 1 The diagnosis of BH4 deficiencies is straight ... n n n ↓ n BH4 loading test +/- + + + + + ...

  2. 3rd European Phenylketonuria Group (EPG) Symposium - Advances and challenges in PKU

    ... Patricia Janeiro, Portugal The 48-hour BH4 -loading test, what does it tell us. A Dutch multicenter study Karen Anjema, ... (UK); Francjan van Spronsen (Netherlands)   Tetrahydrobiopterin Research: Back to the Future Nenad Blau, Switzerland ...

  3. XXV ESPKU Conference

    ... management from early life throughout adulthood: ruling out tetrahydrobiopterin deficiency, evaluating sapropterin responsiveness, ... the Netherlands) compared the older neonatal 8-24 hours BH4 loading test (BLT) with the current standard infantile 24-48 hours BLT to ...