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Institut für funktionale Gen-Analytik (IFGA)
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5-Oxoprolinase
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5-oxoprolinuria
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Glutathione synthetase
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Pyroglutamic aciduria
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γ-glutamyl cycle
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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
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Barić, Ivo
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Coker, Mahmut
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Damli-Huber, Aynur
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Faqeih, Eissa Ali
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Segarra, Nuria García
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Geraghty, Michael T.
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Jåtun, Bjørn Magne
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Ucar, Sema Kalkan
;
Kriewitz, Merten
;
Rauchenzauner, Markus
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Bilić, Karmen
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Tournev, Ivailo
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Till, Claudia
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Sayson, Bryan
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Beumer, Daniel
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Ye, Cynthia Xin
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Zhang, Lin-Hua
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Vallance, Hilary
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Alkuraya, Fowzan S.
;
van Karnebeek, Clara D.M.
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients
(2013)
Wortmann, Saskia B.
;
Kluijtmans, Leo A. J.
;
Rodenburg, Richard J.
;
Sass, Jörn Oliver
;
Nouws, Jessica
;
van Kaauwen, Edwin P.
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Kleefstra, Tjitske
;
Tranebjaerg, Lisbeth
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Vries, Maaike C. de
;
Isohanni, Pirjo
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Walter, Katharina
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Alkuraya, Fowzan S.
;
Smuts, Izelle
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Reinecke, Carolus J.
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van der Westhuizen, Francois H.
;
Thorburn, David
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Smeitink, Jan A. M.
;
Morava, Eva
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Wevers, Ron A.
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