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Browsing by Author Häberle, Johannes

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Issue DateTitleAuthor(s)Type
29-May-2012Suggested Guidelines for the Diagnosis and Management of Urea Cycle DisordersHäberle, Johannes; Boddaert, Nathalie; Burlina, Alberto; Chakrapani, Anupam; Dixon, Marjorie; Huemer, Martina; Karall, Daniela; Martinelli, Diego; Crespo, Pablo S.; Santer, René; Servais, Aude; Valayannopoulos, Vassili; Lindner, Martin; Rubio, Vicente; Dionisi-Vici, CarloArtículo
18-Apr-2014Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: effects of CPS1 mutations that concentrate in a central domain of unknown functionDíez-Fernández, Carmen; Hu, Liyan; Cervera, Javier; Häberle, Johannes; Rubio, VicenteArtículo

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