• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Isovaleric acidemia: personal history, clinical survey and study of the molecular basis.

作者信息

Tanaka K

机构信息

Yale University School of Medicine, Department of Human Genetics, New Haven, CT 06510.

出版信息

Prog Clin Biol Res. 1990;321:273-90.

PMID:2326294
Abstract
摘要

相似文献

1
Isovaleric acidemia: personal history, clinical survey and study of the molecular basis.异戊酸血症：个人病史、临床调查及分子基础研究
Prog Clin Biol Res. 1990;321:273-90.
2
L-carnitine therapy in isovaleric acidemia.L-肉碱治疗异戊酸血症
J Clin Invest. 1984 Dec;74(6):2290-5. doi: 10.1172/JCI111657.
3
[Acidemia, isovaleric].
Ryoikibetsu Shokogun Shirizu. 2001(33):95-6.
4
Molecular basis of isovaleric acidemia and the study of the acyl-CoA dehydrogenase family.异戊酸血症的分子基础及酰基辅酶A脱氢酶家族的研究
Adv Neurol. 1988;48:107-31.
5
Neonatal isovaleric acidemia associated with hyperammonemia.
Adv Exp Med Biol. 1982;153:141-6. doi: 10.1007/978-1-4757-6903-6_19.
6
[Isovaleric acidemia].
Ryoikibetsu Shokogun Shirizu. 1998(18 Pt 1):280-3.
7
The treatment of isovaleric acidemia with glycine supplement.用甘氨酸补充剂治疗异戊酸血症。
Pediatr Res. 1988 Jul;24(1):9-13. doi: 10.1203/00006450-198807000-00004.
8
[Isovaleric acidemia].
Tanpakushitsu Kakusan Koso. 1988 Apr;33(5):554-9.
9
Isovaleric acidemia diagnosed promptly by tandem mass spectrometry: report of one case.串联质谱法快速诊断异戊酸血症：1例报告
Acta Paediatr Taiwan. 2004 Jul-Aug;45(4):236-8.
10
Isovaleryl-CoA dehydrogenase activity in isovaleric acidemia fibroblasts using an improved tritium release assay.使用改良的氚释放测定法检测异戊酸血症成纤维细胞中的异戊酰辅酶A脱氢酶活性。
Pediatr Res. 1986 Jan;20(1):59-61. doi: 10.1203/00006450-198601000-00017.

引用本文的文献

1
Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta-Analysis.新生儿筛查对经典异戊酸血症患者生存及发育结局的影响：一项荟萃分析
J Inherit Metab Dis. 2025 Nov;48(6):e70090. doi: 10.1002/jimd.70090.
2
Structural Insights into Isovaleryl-Coenzyme A Dehydrogenase: Mechanisms of Substrate Specificity and Implications of Isovaleric Acidemia-Associated Mutations.异戊酰辅酶A脱氢酶的结构见解：底物特异性机制及异戊酸血症相关突变的影响
Research (Wash D C). 2025 May 28;8:0661. doi: 10.34133/research.0661. eCollection 2025.
3
Three linked variants have opposing regulatory effects on isovaleryl-CoA dehydrogenase gene expression.
三个连锁变体对异戊酰基辅酶 A 脱氢酶基因表达具有相反的调控作用。
Hum Mol Genet. 2024 Jan 20;33(3):270-283. doi: 10.1093/hmg/ddad177.
4
An unusual case of oral surgical management in a patient with isovaleric acidemia and schizophrenia: A case report.一例异戊酸血症合并精神分裂症患者的口腔外科治疗特殊病例：病例报告
Biomed Rep. 2022 Jun 7;17(2):64. doi: 10.3892/br.2022.1547. eCollection 2022 Aug.
5
Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis.通过新生儿筛查鉴定出的异戊酰基辅酶 A 脱氢酶意义未明变异体的特征：一种更快的分析方法。
Mol Genet Metab. 2021 Sep-Oct;134(1-2):29-36. doi: 10.1016/j.ymgme.2021.08.012. Epub 2021 Aug 30.
6
Neonatal isovaleric acidemia in China: A case report and review of literature.中国新生儿异戊酸血症：一例病例报告及文献复习
World J Clin Cases. 2021 Jan 16;9(2):436-444. doi: 10.12998/wjcc.v9.i2.436.
7
Aspects of Newborn Screening in Isovaleric Acidemia.异戊酸血症的新生儿筛查要点
Int J Neonatal Screen. 2018 Jan 29;4(1):7. doi: 10.3390/ijns4010007. eCollection 2018 Mar.
8
-Mediated Leucine Catabolism Is Required for Vegetative Growth, Conidiation and Full Virulence of the Rice Blast Fungus .介导的亮氨酸分解代谢是稻瘟病菌营养生长、产孢和完全致病性所必需的 。
Front Microbiol. 2019 Mar 14;10:444. doi: 10.3389/fmicb.2019.00444. eCollection 2019.
9
Introduction of a Simple Second Tier Screening Test for C5 Isobars in Dried Blood Spots: Reducing the False Positive Rate for Isovaleric Acidaemia in Expanded Newborn Screening.用于干血斑中C5同量异位素的简单二级筛查试验介绍：降低扩大新生儿筛查中异戊酸血症的假阳性率
JIMD Rep. 2018;38:75-80. doi: 10.1007/8904_2017_33. Epub 2017 Jun 20.
10
Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.威斯康星州新生儿筛查中发现的短链/支链酰基辅酶 A 脱氢酶缺乏症 (SBCADD) 的流行率和突变分析。
Mol Genet Metab. 2013 Sep-Oct;110(1-2):111-5. doi: 10.1016/j.ymgme.2013.03.021. Epub 2013 Apr 15.