期刊文献+

1例17α-羟化酶缺陷症患者股骨颈骨折的护理

原文传递
导出
摘要 先天性肾上腺增生症是一类常染色体隐性遗传病(CAH),主要由于。肾上腺皮质激素生物合成过程中所必需的酶存在缺陷,致使皮质激素合成不正常。皮质激素水平低下刺激垂体分泌ACTH,引起肾上腺皮质增生。17α-羟化酶缺陷型是CAH中极为罕见的类型,仅占先天性。肾上腺增生症的1%。由于17α-羟化酶缺乏症会使人体盐皮质激素、
出处 《中国实用护理杂志》 2007年第8期67-68,共2页 Chinese Journal of Practical Nursing
  • 相关文献

参考文献4

二级参考文献19

  • 1陆召磷,宋文英,张平,郭爱丽,张洁萍.17α-羟化酶缺陷症的诊断和治疗──13例临床经验[J].中华内分泌代谢杂志,1994,10(4):195-197. 被引量:10
  • 2Biglieri EG, Herron MA, Brust N. 17α-Hydroxylase deficiency in man. J Clin Invest, 1966,45:1946-1954. 被引量:1
  • 3Lam CW, Arlt W, Chan CK, et al. Mutation of proline 409 to arginine in the meander region of cytochrome P450c17 causes severe 17alpha-hydroxylase deficiency. Mol Genet Metab, 2001,72:254-259. 被引量:1
  • 4陈家伦 许曼音 张达青 等.17α—羟化酶缺乏症——附一例报道[J].上海第二医学院学报,1982,4:109-112. 被引量:1
  • 5Laflamme N, Leblanc JF, Mailloux J, et al. Mutation R96W in cytochrome P450c17 gene causes combined 17alpha-hydroxylase/17,20-lyase deficiency in two French Canadian patients. J Clin Endocrinol Metab, 1996,18:264-268. 被引量:1
  • 6Lin D, Harikrishna JA, Moore CCD, et al. Missense mutation Serine106→Proline causes 17α-hydroxylase deficiency. J Biol Chem, 1991,266:15992-15998. 被引量:1
  • 7Lin D, Black SM, Nagahama Y, et al. Steroid 17alpha-hydroxylase and 17,20-lyase activities of P450c17: contribution of serine 106 and P450 reductase. Endicronology, 1993,132:2498-2506. 被引量:1
  • 8Lin D, Zhang LH. Chiao E, et al. Modeling and mutagenesis of the active site of human P450c17. Mol Endocrinol, 1994,8:392-402. 被引量:1
  • 9Fardella CE, Lin HZ, Mahachoklertwattna P. Deletion of amino acids Asp487-Ser488-Phe489 in human cytochrome P450C17 causes severe 17α-hydroxylase deficiency. J Clin Endocrinol Metab, 1993,77:489-493. 被引量:1
  • 10Yanase T, Waterman MR, Zachmann M, et al. Molecular basis of apparent isolated 17,20-lyase deficiency: compound heterozygous mutations in the C-terminal region (Arg (496)-Cys, Gln (461)-stop) actually cause combined 17-alpha-hydroxylase/17,20-lyase deficiency. Biochem Biophys Acta, 1992,1139:275-279. 被引量:1

共引文献10

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部