Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries

Evers, R.; van Wegberg, A.; Ahring, K.; Beblo, S.; Belanger-Quintana, A.; Bosch, A.; Burlina, A.; Campistol, J.; Coskun, T.; Feillet, F.; Gizewska, M.; Huijbregts, S.; Kearney, S.; Langeveld, M.; Leuzzi, V; Maillot, F.; Muntau, A.; Rocha, J.; Romani, C.; Trefz, F.; MacDonald, A.; van Spronsen, F.

doi:10.1016/j.ymgme.2021.01.013

Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries

Evers R. A. F., van Wegberg A. M. J., Ahring K., Beblo S., Belanger-Quintana A., Bosch A. M., ...More

MOLECULAR GENETICS AND METABOLISM, vol.132, no.4, pp.215-219, 2021 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 132 Issue: 4
Publication Date: 2021
Doi Number: 10.1016/j.ymgme.2021.01.013
Journal Name: MOLECULAR GENETICS AND METABOLISM
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, Chemical Abstracts Core, EMBASE, MEDLINE, Veterinary Science Database
Page Numbers: pp.215-219
Hacettepe University Affiliated: Yes

Abstract

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.