MOLECULAR GENETICS AND METABOLISM, cilt.132, sa.4, ss.215-219, 2021 (SCI-Expanded)
Background: A subset of patients with phenylketonuria benefit from treatment with tetrahydrobiopterin (BH4), although there is no consensus on the definition of BH4 responsiveness. The aim of this study therefore was to gain insight into the definitions of long-term BH4 responsiveness being used around the world.