• 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

Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia.

作者信息

Bartlett K, Bennett M J, Hill R P, Lashford L S, Pollitt R J, Worth H G

出版信息

J Inherit Metab Dis. 1984;7(4):182. doi: 10.1007/BF01805608.

DOI:10.1007/BF01805608
PMID:6441868
Abstract
摘要

相似文献

1
Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia.以危及生命的低血糖症为表现的孤立性生物素抵抗性3-甲基巴豆酰辅酶A羧化酶缺乏症。
J Inherit Metab Dis. 1984;7(4):182. doi: 10.1007/BF01805608.
2
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs.两名同胞中出现的孤立性生物素抵抗性3-甲基巴豆酰辅酶A羧化酶缺乏症。
Eur J Pediatr. 1982 Jul;138(4):351-4. doi: 10.1007/BF00442517.
3
Two siblings with biotin-resistant 3-methylcrotonyl-coenzyme A carboxylase deficiency.
J Pediatr. 1989 Jul;115(1):110-3. doi: 10.1016/s0022-3476(89)80343-9.
4
Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation.孤立性3-甲基巴豆酰辅酶A羧化酶缺乏症中的严重低血糖症；一种罕见的严重临床表现。
J Inherit Metab Dis. 2005;28(6):1136-8. doi: 10.1007/s10545-005-4545-1.
5
Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency.
J Inherit Metab Dis. 1985;8 Suppl 2:105-6. doi: 10.1007/BF01811480.
6
Inherited disorders of 3-methylcrotonyl CoA carboxylation.3-甲基巴豆酰辅酶A羧化酶遗传性疾病。
Arch Dis Child. 1981 Jan;56(1):53-9. doi: 10.1136/adc.56.1.53.
7
Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology.孤立性（生物素抵抗性）3-甲基巴豆酰辅酶A羧化酶缺乏症：4名无病理表现的同胞。
J Inherit Metab Dis. 1995;18(5):643-5. doi: 10.1007/BF02436014.
8
Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome.
J Inherit Metab Dis. 1992;15(6):863-8. doi: 10.1007/BF01800223.
9
Partial methylcrotonyl-coenzyme A carboxylase deficiency in an infant with failure to thrive, gastrointestinal dysfunction, and hypertonia.
Pediatrics. 1993 Mar;91(3):664-6.
10
Enzyme studies in biotin-responsive disorders.生物素反应性疾病中的酶学研究。
J Inherit Metab Dis. 1985;8 Suppl 1:46-52. doi: 10.1007/BF01800659.

引用本文的文献

1
Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases.为生命筛查：成人代谢专家对遗传性代谢疾病新生儿筛查的看法
J Inherit Metab Dis. 2025 Jul;48(4):e70057. doi: 10.1002/jimd.70057.
2
Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.3-甲基巴豆酰辅酶A羧化酶（3-MCC）缺乏症病例的结局——来自遗传代谢病信息系统的报告
Mol Genet Metab. 2016 May;118(1):15-20. doi: 10.1016/j.ymgme.2016.02.002. Epub 2016 Feb 15.
3
The consequences of extended newborn screening programmes: do we know who needs treatment?

本文引用的文献

1
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs.两名同胞中出现的孤立性生物素抵抗性3-甲基巴豆酰辅酶A羧化酶缺乏症。
Eur J Pediatr. 1982 Jul;138(4):351-4. doi: 10.1007/BF00442517.
扩大新生儿筛查项目的后果：我们知道谁需要治疗吗？
J Inherit Metab Dis. 2008 Apr;31(2):173-7. doi: 10.1007/s10545-008-0843-8. Epub 2008 Feb 22.
4
Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation.孤立性3-甲基巴豆酰辅酶A羧化酶缺乏症中的严重低血糖症；一种罕见的严重临床表现。
J Inherit Metab Dis. 2005;28(6):1136-8. doi: 10.1007/s10545-005-4545-1.
5
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset.孤立性生物素抵抗型3-甲基巴豆酰辅酶A羧化酶缺乏症：1例新生儿起病患者的长期预后
Eur J Pediatr. 1996 Jul;155(7):568-72. doi: 10.1007/BF01957906.
6
Enzyme studies in biotin-responsive disorders.生物素反应性疾病中的酶学研究。
J Inherit Metab Dis. 1985;8 Suppl 1:46-52. doi: 10.1007/BF01800659.
7
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye syndrome-like illness.
J Inherit Metab Dis. 1989;12(3):339-40. doi: 10.1007/BF01799234.
8
Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome.
J Inherit Metab Dis. 1992;15(6):863-8. doi: 10.1007/BF01800223.