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Orphanet journal of rare diseases, v.7, 2012년, pp.32 - 32
Häberle, Johannes (University Children’s Hospital Zurich and Children’s Research Centre, Zurich, 8032, Switzerland) , Boddaert, Nathalie (Radiologie Hopital Necker, Service Radiologie Pediatrique, 149 Rue De Sevres, Paris 15, 75015, France) , Burlina, Alberto (Department of Pediatrics, Division of Inborn Metabolic Disease, University Hospital Padua, Via Giustiniani 3, Padova, 35128, Italy) , Chakrapani, Anupam (Birmingham Children’s Hospital NHS Foundation Trust, Steelhouse Lane, Birmingham, B4 6NH, United Kingdom) , Dixon, Marjorie (Dietetic Department, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, WC1N 3JH, United Kingdom) , Huemer, Martina (Kinderabteilung, LKH Bregenz, Carl-Pedenz-Strasse 2, Bregenz, A-6900, Austria) , Karall, Daniela (University Children’s Hospital, Medical University Innsbruck, Anichstrasse 35, Innsbruck, 6020, Austria) , Martinelli, Diego (Division of Metabolism, Bambino Gesù) , Crespo, Pablo Sanjurjo (Children’s Hospital, IRCCS, Piazza S. Onofrio 4, Rome, I-00165, Italy) , Santer, René (Division of Pediatric Metabolism, Cruces Children Hospital, Baracaldo, 48903, Spain) , Servais, Aude (Universitä) , Valayannopoulos, Vassili (tsklinikum Hamburg Eppen) , Lindner, Martin , Rubio, Vicente , Dionisi-Vici, Carlo
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Urea cycle disorders (UCDs) are inborn errors of ammonia detoxification/arginine synthesis due to defects affecting the catalysts of the Krebs-Henseleit cycle (five core enzymes, one activating enzyme and one mitochondrial ornithine/citrulline antiporter) with an estimated incidence of 1:8.000. Pati...
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