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Number of items: 3.

Sass, Jörn Oliver; Gemperle-Britschgi, Corinne; Tarailo-Graovac, Maja; Patel, Nisha; Walter, Melanie; Jordanova, Albena; Alfadhel, Majid; Barić, Ivo; Çoker, Mahmut; Damli-Huber, Aynur; Faqeih, Eissa Ali; García Segarra, Nuria; Geraghty, Michael T; Jåtun, Bjørn Magne; Kalkan Uçar, Sema; 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 (2016). Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families. Molecular Genetics and Metabolism, 119(1-2):44-49.

Jamiolkowski, Dagmar; Kölker, Stefan; Glahn, Esther M; Barić, Ivo; Zeman, Jiri; Baumgartner, Matthias R; Mühlhausen, Chris; Garcia-Cazorla, Angels; Gleich, Florian; Haege, Gisela; Burgard, Peter (2016). Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders. Journal of Inherited Metabolic Disease, 39(2):231-241.

Heringer, Jana; Valayannopoulos, Vassili; Lund, Allan M; Wijburg, Frits A; Freisinger, Peter; Barić, Ivo; Baumgartner, Matthias R; Burgard, Peter; Burlina, Alberto B; Chapman, Kimberly A; I Saladelafont, Elisenda Cortès; Karall, Daniela; Mühlhausen, Chris; Riches, Victoria; Schiff, Manuel; Sykut-Cegielska, Jolanta; Walter, John H; Zeman, Jiri; Chabrol, Brigitte; Kölker, Stefan (2016). Impact of age at onset and newborn screening on outcome in organic acidurias. Journal of Inherited Metabolic Disease, 39(3):341-353.

This list was generated on Mon Sep 24 06:17:57 2018 CEST.