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Department, Institute
Institut für funktionale Gen-Analytik (IFGA)
(2)
Fachbereich Angewandte Naturwissenschaften
(1)
Year of publication
2016
(1)
2011
(1)
Is part of the Bibliography
no
(1)
yes
(1)
Keywords
5-Oxoprolinase
(1)
5-oxoprolinuria
(1)
Glutathione synthetase
(1)
Pyroglutamic aciduria
(1)
γ-glutamyl cycle
(1)
2
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Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency
(2011)
Fukao, Toshiyuki
;
Sass, Jörn Oliver
;
Kursula, Petri
;
Thimm, Eva
;
Wendel, Udo
;
Ficicioglu, Can
;
Monastiri, Kamel
;
Guffon, Nathalie
;
Barić, Ivo
;
Zabot, Marie-Therese
;
Kondo, Naomi
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAHmutations: 20 new mutations in 14 families
(2016)
Sass, Jörn Oliver
;
Gemperle-Britschgi, Corinne
;
Tarailo-Graovac, Maja
;
Patel, Nisha
;
Walter, Melanie
;
Jordanova, Albena
;
Alfadhel, Majid
;
Barić, Ivo
;
Coker, Mahmut
;
Damli-Huber, Aynur
;
Faqeih, Eissa Ali
;
Segarra, Nuria García
;
Geraghty, Michael T.
;
Jåtun, Bjørn Magne
;
Ucar, Sema Kalkan
;
Kriewitz, Merten
;
Rauchenzauner, Markus
;
Bilić, Karmen
;
Tournev, Ivailo
;
Till, Claudia
;
Sayson, Bryan
;
Beumer, Daniel
;
Ye, Cynthia Xin
;
Zhang, Lin-Hua
;
Vallance, Hilary
;
Alkuraya, Fowzan S.
;
van Karnebeek, Clara D.M.
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