A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the <i>OXCT1</i> Gene.

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作者： Daniel J,Zheng ^[1] ; Michael,Hooper ^[1] ; Michele,Spencer-Manzon ^[1] ; Richard W,Pierce ^[2]

作者单位： Department of Pediatrics, Yale School of Medicine, New Haven, Connecticut, United States. ^[1] Department of Genetics, Yale School of Medicine, New Haven, Connecticut, United States. ^[2]

关键词 OXCT1 gene ketoacidosis succinyl-coA:3-oxoacid CoA transferase deficiency

DOI 10.1055/s-0037-1604270

PMID 31073471

发布时间 2020-09-30

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Journal of pediatric intensive care

2018年7卷1期

62-66页

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A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the <i>OXCT1</i> Gene.

Journal of pediatric intensive care

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Journal of pediatric intensive care

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A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the <i>OXCT1</i> Gene.

Journal of pediatric intensive care

相似文献

Journal of pediatric intensive care

相关期刊

检索历史清除