标题
Inborn errors of ketone body utilization
作者
关键词
-
出版物
PEDIATRICS INTERNATIONAL
Volume 57, Issue 1, Pages 41-48
出版商
Wiley
发表日期
2015-01-06
DOI
10.1111/ped.12585
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation
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- Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency
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- A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency
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- Different Clinical Presentation in Siblings with Mitochondrial Acetoacetyl-CoA Thiolase Deficiency and Identification of Two Novel Mutations
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- A novel single-base substitution (c.1124A>G) that activates a 5-base upstream cryptic splice donor site within exon 11 in the human mitochondrial acetoacetyl-CoA thiolase gene
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