CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.
作者信息
Martinelli Diego, Fiermonte Giuseppe, Häberle Johannes, Boenzi Sara, Goffredo Bianca Maria, Travaglini Lorena, Agolini Emanuele, Porcelli Vito, Dionisi-Vici Carlo
机构信息
Division of Metabolism and Research Unit of Metabolic Biochemistry, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Bari, Italy.
出版信息
Eur J Hum Genet. 2020 Jul;28(7):982-987. doi: 10.1038/s41431-020-0616-x. Epub 2020 Apr 2.
Abstract
摘要
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