• 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

Pyridoxine-responsive genetic disease.

作者信息

Mudd S H

出版信息

Fed Proc. 1971 May-Jun;30(3):970-6.

PMID:5575302
Abstract
摘要

相似文献

1
Pyridoxine-responsive genetic disease.维生素B6反应性遗传病
Fed Proc. 1971 May-Jun;30(3):970-6.
2
Homocystinuria due to cystathionine synthase deficiency: enzymatic and ultrastructural studies.由于胱硫醚合成酶缺乏所致的同型胱氨酸尿症：酶学及超微结构研究
J Pediatr. 1974 Mar;84(3):381-90. doi: 10.1016/s0022-3476(74)80721-3.
3
Biochemical observations on so-called hereditary tyrosinemia.关于所谓遗传性酪氨酸血症的生化观察
Pediatr Res. 1970 Jul;4(4):337-44. doi: 10.1203/00006450-197007000-00004.
4
Newer trends in the genetic and biochemical studies in the etiopathogenesis of aminoacidopathies.氨基酸代谢病病因学中基因与生化研究的新趋势。
Neurol India. 1973 Sep;21(3):128-36.
5
Vitamin dependency syndromes.维生素依赖综合征
Med J Aust. 1972 Jan 22;1(4):147-8. doi: 10.5694/j.1326-5377.1972.tb46729.x.
6
Biochemical foundations of preventive medicine: the study of abnormal enzymes.
Horiz Biochem Biophys. 1974;1:97-137.
7
[Biochemical aspects of some congenital anomalies of the metabolism of sulfur amino acids].
Expos Annu Biochim Med. 1967;28:53-76.
8
Homocystinuria due to cystathionine synthase deficiency: the metabolism of L-methionine.由于胱硫醚β-合酶缺乏导致的同型胱氨酸尿症：L-蛋氨酸的代谢
J Clin Invest. 1965 Oct;44(10):1708-19. doi: 10.1172/JCI105278.
9
Pyridoxine effects on cystathionine synthase in rat liver.吡哆醇对大鼠肝脏中胱硫醚合酶的影响。
J Nutr. 1970 Apr;100(4):467-9. doi: 10.1093/jn/100.4.467.
10
[Chief clinical syndromes in children with tryptophan metabolism disorders (literature survey)].[色氨酸代谢紊乱患儿的主要临床综合征（文献综述）]
Vopr Okhr Materin Det. 1972 Jun;17(6):45-8.

引用本文的文献

1
First reported cases of gyrate atrophy of the choroid from Nepal.尼泊尔首次报告脉络膜回旋性萎缩病例。
BMJ Case Rep. 2010 Nov 29;2010:bcr0420102951. doi: 10.1136/bcr.04.2010.2951.
2
Gyrate atrophy of the choroid and retina with hyperornithinemia, cystinuria and lysinuria responsive to vitamin B6.伴有高鸟氨酸血症、胱氨酸尿症和赖氨酸尿症的脉络膜和视网膜回旋状萎缩，对维生素B6有反应。
BMJ Case Rep. 2011 Mar 15;2011:bcr0720103200. doi: 10.1136/bcr.07.2010.3200.
3
Gyrate atrophy of the choroid and retina with hyper-ornithinemia responsive to vitamin B6: a case report.
伴有高鸟氨酸血症的脉络膜和视网膜回旋性萎缩对维生素B6有反应：病例报告
J Med Case Rep. 2007 Jun 12;1:27. doi: 10.1186/1752-1947-1-27.
4
Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6.
Am J Hum Genet. 1980 Jul;32(4):529-41.
5
Megavitamin therapy in inherited metabolic disorders.遗传性代谢紊乱中的大剂量维生素疗法。
Indian J Pediatr. 1981 Sep-Oct;48(394):635-46. doi: 10.1007/BF02821592.
6
Gyrate atrophy of the choroid and retina. Approaches to therapy.脉络膜和视网膜的回旋状萎缩。治疗方法。
Int Ophthalmol. 1981 Aug;4(1-2):23-32. doi: 10.1007/BF00139577.
7
Can nutritional supplements help mentally retarded children? an exploratory study.营养补充剂对智力迟钝儿童有帮助吗？一项探索性研究。
Proc Natl Acad Sci U S A. 1981 Jan;78(1):574-8. doi: 10.1073/pnas.78.1.574.
8
Vitamin B 6 -responsive histidine deficiency in mutants of Salmonella typhimurium.鼠伤寒沙门氏菌突变体中维生素B6反应性组氨酸缺乏症
Proc Natl Acad Sci U S A. 1971 Dec;68(12):2903-7. doi: 10.1073/pnas.68.12.2903.
9
Cysteine activation in cultured cystinotic cells. The specific activity of cysteinyl-tRNA synthetase and tRNACys and the determination of the Michaelis-Menten constants for cysteinyl-tRNA synthetase.培养的胱氨酸病细胞中的半胱氨酸激活。半胱氨酰 - tRNA合成酶和tRNACys的比活性以及半胱氨酰 - tRNA合成酶米氏常数的测定。
J Clin Invest. 1974 Jul;54(1):182-7. doi: 10.1172/JCI107741.
10
Inborn errors of metabolism: principles and their applications.先天性代谢缺陷：原理及其应用
Can Med Assoc J. 1972 Mar 18;106(6):677 passim.