Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency.

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第一作者： Yunha,Choi

第一单位： Department of Pediatrics, Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea.

作者： Yunha,Choi ^[1] ; Arum,Oh ^[2] ; Yena,Lee ^[1] ; Gu-Hwan,Kim ^[3] ; Jin-Ho,Choi ^[1] ; Han-Wook,Yoo ^[4] ; Beom Hee,Lee ^[5]

作者单位： Department of Pediatrics, Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea. ^[1] Department of Pediatrics, Chungbuk National University Hospital, Chungbuk National University College of Medicine, Cheongju, South Korea. ^[2] Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea. ^[3] Department of Pediatrics, Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea; Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea. ^[4] Department of Pediatrics, Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea; Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea. Electronic address: bhlee@amc.seoul.kr. ^[5]

关键词 Carbamoyl phosphate synthetase 1 deficiency Carbamylglutamate Hyperammonemia Irreversible neurologic damage Urea cycle disorder

主题词氨甲酰磷酸合酶(氨)(Carbamoyl-Phosphate Synthase (Ammonia));氨甲酰磷酸合酶Ⅰ缺乏病(Carbamoyl-Phosphate Synthase I Deficiency Disease);氨甲酰磷酸盐(Carbamyl Phosphate);人类(Humans);婴儿, 新生(Infant, Newborn);突变(Mutation);尿素循环障碍, 先天性(Urea Cycle Disorders, Inborn)

DOI 10.1016/j.cca.2021.11.029

PMID 34973183

发布时间 2022-05-31

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