Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase <i>(IVD)</i> gene causing severe Isovaleric acidemia with hyperammonemia.

导出 LinkOut

翻译打印收藏纠错

作者： Anne Chun-Hui,Tsai ^[1] ; Hsin-Ti,Lin ^[1] ; Maxwell,Chou ^[1] ; Jessica,Bolen ^[1] ; Chelsea,Zimmerman ^[1] ; Danielle,DeMarzo ^[1] ; Yazmin,Enchautegui-Colon ^[1]

作者单位： Section of Genetics, Department of Pediatrics, University of Oklahoma Health sciences Center, Oklahoma Children's Hospital, Oklahoma City, OK, United States of America. ^[1]

关键词 Ammonul Bone marrow suppression Carglumic acid Granulocyte-colony stimulating factor Hyperammonemia Isovaleric acidemia

DOI 10.1016/j.ymgmr.2022.100859

PMID 35782626

发布时间 2022-07-16

翻译满意度评价：

准确一般字义偏差语意偏离译文作用小提交

浏览0

Molecular genetics and metabolism reports

2022年31卷

100859页

相似文献

中文期刊
外文期刊
学位论文
会议论文

检索历史清除

Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase <i>(IVD)</i> gene causing severe Isovaleric acidemia with hyperammonemia.

Molecular genetics and metabolism reports

相似文献

Molecular genetics and metabolism reports

相关期刊

参考文献：
指定格式：	NoteExpress EndNote RefWorks NoteFirst

检索历史 清除

Compound heterozygote variants: c.848A &gt; G; p.Glu283Gly and c.890C &gt; T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase <i>(IVD)</i> gene causing severe Isovaleric acidemia with hyperammonemia.

Molecular genetics and metabolism reports

相似文献

Molecular genetics and metabolism reports

相关期刊

检索历史清除

Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase <i>(IVD)</i> gene causing severe Isovaleric acidemia with hyperammonemia.