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., ...Daha Fazla

MOLECULAR GENETICS AND METABOLISM, cilt.132, sa.4, ss.215-219, 2021 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 132 Sayı: 4
Basım Tarihi: 2021
Doi Numarası: 10.1016/j.ymgme.2021.01.013
Dergi Adı: MOLECULAR GENETICS AND METABOLISM
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, Chemical Abstracts Core, EMBASE, MEDLINE, Veterinary Science Database
Sayfa Sayıları: ss.215-219
Hacettepe Üniversitesi Adresli: Evet

Özet

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.