Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis.

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作者： Hideo,Sasai ^[1] ; Yuka,Aoyama ^[1] ; Hiroki,Otsuka ^[2] ; Elsayed,Abdelkreem ^[1] ; Yasuhiro,Naiki ^[1] ; Mitsuru,Kubota ^[3] ; Yuji,Sekine ^[4] ; Masatsune,Itoh ^[5] ; Mina,Nakama ^[6] ; Hidenori,Ohnishi ^[7] ; Ryoji,Fujiki ^[8] ; Osamu,Ohara ^[1] ; Toshiyuki,Fukao ^[9]

作者单位： Department of Pediatrics, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu City, Gifu, 501-1194, Japan. ^[1] Department of Biomedical Sciences, College of Life and Health Sciences, Chubu University, Kasugai, Japan. ^[2] Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt. ^[3] Division of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan. ^[4] Department of General Pediatrics and Interdisciplinary Medicine, National Center for Child Health and Development, Tokyo, Japan. ^[5] Department of General Pediatrics, Shizuoka Children's Hospital, Shizuoka, Japan. ^[6] Department of Pediatrics, Kanazawa Medical University, Kanazawa, Japan. ^[7] Division of Clinical Genetics, Gifu University Hospital, Gifu, Japan. ^[8] Department of Technology Development, Kazusa DNA Research Institute, Kisarazu, Japan. ^[9] Department of Pediatrics, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu City, Gifu, 501-1194, Japan. toshi-gif@umin.net. ^[10] Division of Clinical Genetics, Gifu University Hospital, Gifu, Japan. toshi-gif@umin.net. ^[11]

关键词 Heterozygous carriers Ketoacidosis OXCT1 SCOT deficiency