Short-chain enoyl-CoA hydratase deficiency causes prominent ketoacidosis with normal plasma lactate levels: A case report.

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第一作者： Madoka,Uesugi

第一单位： Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.

作者： Madoka,Uesugi ^[1] ; Jun,Mori ^[2] ; Shota,Fukuhara ^[1] ; Noriko,Fujii ^[2] ; Tadaki,Omae ^[2] ; Hideo,Sasai ^[2] ; Keiko,Ichimoto ^[3] ; Kei,Murayama ^[4] ; Toshio,Osamura ^[4] ; Hajime,Hosoi ^[2]

作者单位： Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan. ^[1] Department of Pediatrics, Japanese Red Cross Kyoto Daini Hospital, Kyoto, Japan. ^[2] Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan. ^[3] Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba, Japan. ^[4]

关键词 ECHS1, Short-chain enoyl-CoA hydratase HIBCH, 3-hydroxyisobutyryl-CoA hydrolase gene SD, standard deviation

DOI 10.1016/j.ymgmr.2020.100672

PMID 33163364

发布时间 2020-11-12

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Molecular genetics and metabolism reports

2020年25卷

100672页

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Short-chain enoyl-CoA hydratase deficiency causes prominent ketoacidosis with normal plasma lactate levels: A case report.

Molecular genetics and metabolism reports

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Molecular genetics and metabolism reports

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Short-chain enoyl-CoA hydratase deficiency causes prominent ketoacidosis with normal plasma lactate levels: A case report.

Molecular genetics and metabolism reports

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Molecular genetics and metabolism reports

相关期刊

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