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OALib Journal期刊
ISSN: 2333-9721
费用：99美元
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Suggested guidelines for the diagnosis and management of urea cycle disorders
DOI: 10.1186/1750-1172-7-32
Johannes Haeberle, Nathalie Boddaert, Alberto Burlina, Anupam Chakrapani, Marjorie Dixon, Martina Huemer, Daniela Karall, Diego Martinelli, Pablo Sanjurjo Crespo, René Santer, Aude Servais, Vassili Valayannopoulos, Martin Lindner, Vicente Rubio, Carlo Dionisi-Vici
Keywords: Urea cycle disorders, UCD, Hyperammonemia, N-acetylglutamate synthase, Carbamoylphosphate synthetase 1, Ornithine transcarbamylase, Ornithine carbamoyl transferase, Argininosuccinate synthetase, Argininosuccinate lyase, Arginase 1, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Abstract:
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