TY  - JOUR
U1  - Zeitschriftenartikel, wissenschaftlich - begutachtet (reviewed)
A1  - Sass, Jörn Oliver
A1  - Gemperle-Britschgi, Corinne
A1  - Tarailo-Graovac, Maja
A1  - Patel, Nisha
A1  - Walter, Melanie
A1  - Jordanova, Albena
A1  - Alfadhel, Majid
A1  - Barić, Ivo
A1  - Coker, Mahmut
A1  - Damli-Huber, Aynur
A1  - Faqeih, Eissa Ali
A1  - Segarra, Nuria García
A1  - Geraghty, Michael T.
A1  - Jåtun, Bjørn Magne
A1  - Ucar, Sema Kalkan
A1  - Kriewitz, Merten
A1  - Rauchenzauner, Markus
A1  - Bilić, Karmen
A1  - Tournev, Ivailo
A1  - Till, Claudia
A1  - Sayson, Bryan
A1  - Beumer, Daniel
A1  - Ye, Cynthia Xin
A1  - Zhang, Lin-Hua
A1  - Vallance, Hilary
A1  - Alkuraya, Fowzan S.
A1  - van Karnebeek, Clara D.M.
T1  - Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAHmutations: 20 new mutations in 14 families
JF  - Molecular Genetics and Metabolism
KW  - 5-Oxoprolinase
KW  - Pyroglutamic aciduria
KW  - 5-oxoprolinuria
KW  - Glutathione synthetase
KW  - γ-glutamyl cycle
SN  - 1096-7192
SS  - 1096-7192
U6  - https://doi.org/10.1016/j.ymgme.2016.07.008
DO  - https://doi.org/10.1016/j.ymgme.2016.07.008
PM  - 27477828
VL  - 119
IS  - 1-2
SP  - 44
EP  - 49
PB  - Elsevier
ER  -