• 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

通过不同遗传机制传播的各种形式肌病中的双酚氧化酶。

Diphenoloxidases in various forms of myopathy which are transmitted by different genetic mechanisms.

作者信息

Demos J J, Tuil D G, Katz P C

出版信息

Hum Genet. 1982;61(3):185-9. doi: 10.1007/BF00296438.

DOI:10.1007/BF00296438
PMID:6816716
Abstract

In a previous article (Demos et al. 1981), we reported a significant and specific reduction of the activity index (AI) of the diphenoloxidases (DPox) in patients and heterozygotes with progressive Duchenne muscular dystrophy (DMD), which is transmitted genetically by female subjects by a sex-linked recessive mechanism (SLR). This same anomaly was detected in patients suffering from other types of dystrophy: Becker, limbgirdle, fascio-scapulo-humeral, and in heterozygotes of either sex in diseases transmitted by an obviously recessive autosomic mechanism. These anomalies were detected using blood spots collected on absorbent paper and stored at 4 degrees C for different periods. They were of the same type as had previously been detected using blood platelets (Demos 1973).

摘要

在之前的一篇文章中(德莫斯等人,1981年),我们报道了患有进行性杜氏肌营养不良症(DMD)的患者及杂合子中,双酚氧化酶(DPox)的活性指数(AI)显著且特异性降低。DMD由女性通过X连锁隐性机制(SLR)进行遗传传递。在患有其他类型营养不良症的患者中也检测到了同样的异常,如贝克尔型、肢带型、面肩肱型,以及由明显隐性常染色体机制传递的疾病中的男女杂合子。这些异常是通过收集在吸水纸上并在4摄氏度下储存不同时间段的血斑检测到的。它们与之前使用血小板检测到的类型相同(德莫斯,1973年)。

相似文献

1
Diphenoloxidases in various forms of myopathy which are transmitted by different genetic mechanisms.通过不同遗传机制传播的各种形式肌病中的双酚氧化酶。
Hum Genet. 1982;61(3):185-9. doi: 10.1007/BF00296438.
2
Diphenoloxidases in X-linked recessive (Duchenne) muscular dystrophy.X连锁隐性(杜兴氏)肌营养不良中的双酚氧化酶
Hum Genet. 1981;59(2):154-60. doi: 10.1007/BF00293066.
3
Platelet diphenoloxidases in progressive muscular dystrophy (P.M.D.).进行性肌营养不良症(P.M.D.)中的血小板双酚氧化酶
Clin Genet. 1973;4(2):79-90.
4
[Enzymology and myopathy. Diagnostic and genetic value of determination of platelet diphenol-oxydase activity].[酶学与肌病。血小板双酚氧化酶活性测定的诊断及遗传学价值]
Arch Fr Pediatr. 1972 Oct;29(8):793-9.
5
Absence of differences in platelet dihydroxyphenylalanine (dopa) oxidase polymorphism in health and Duchenne's muscular dystrophy.健康人群与杜氏肌营养不良患者血小板二羟苯丙氨酸(多巴)氧化酶多态性无差异。
Clin Genet. 1975 May-Jun;7(5):435-41. doi: 10.1111/j.1399-0004.1975.tb00354.x.
6
Creatine-phosphokinase (CPK) activity in relatives of patients with X-linked muscular dystrophies: a Brazilian study.X连锁肌营养不良患者亲属的肌酸磷酸激酶(CPK)活性:一项巴西的研究。
J Genet Hum. 1976 Jun;24(2):153-68.
7
Cysteine and metalloproteinase activities in serum of Duchenne muscular dystrophic genotypes.杜氏肌营养不良基因型患者血清中的半胱氨酸和金属蛋白酶活性
Biol Chem Hoppe Seyler. 1988 May;369 Suppl:277-9.
8
Erythrocyte enzyme allotypes in the X-linked recessive disorders, Duchenne muscular dystrophy and haemophilia-A hemizygotes and heterozygotes.X连锁隐性疾病(杜氏肌营养不良症和甲型血友病)半合子和杂合子中的红细胞酶同种异型。
Acta Paediatr Hung. 1985;26(2):87-96.
9
Studies on the carrier state in X-linked recessive (Duchenne) muscular dystrophy.X连锁隐性(杜氏)肌营养不良症携带者状态的研究。
Clin Chim Acta. 1975 Sep 16;63(3):383-94. doi: 10.1016/0009-8981(75)90061-3.
10
Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers.杜兴氏/贝克氏肌营养不良女性携带者血液中X染色体失活偏倚与血清肌酸激酶水平之间无相关性。
Am J Med Genet. 1998 Dec 4;80(4):356-61.

本文引用的文献

1
[DETERMINATION OF SERUM CREATINE KINASE].[血清肌酸激酶的测定]
Ann Biol Clin (Paris). 1964 Mar-Apr;22:349-55.
2
[Serum enzymes and circulation time in myopathies. Their correlation and their use in the detection of heterozygotes].
Rev Fr Etud Clin Biol. 1963 Jan;8:25-36.
3
[Circulatory disorders during muscular disease; arteriographic research].[肌肉疾病期间的循环系统疾病;动脉造影研究]
Rev Fr Etud Clin Biol. 1957 May;2(5):489-94.
4
Diphenoloxidases in X-linked recessive (Duchenne) muscular dystrophy.X连锁隐性(杜兴氏)肌营养不良中的双酚氧化酶
Hum Genet. 1981;59(2):154-60. doi: 10.1007/BF00293066.
5
[Anomalies of regulation of the muscular microcirculation in children having progressive muscular dystrophy compared to normal children of the same age].[与同龄正常儿童相比,进行性肌营养不良患儿肌肉微循环调节异常]
Rev Fr Etud Clin Biol. 1968 May;13(5):467-83.
6
Early diagnosis and treatment of rapidly developing Duchenne De Boulogne type myopathy (type DDB I).快速进展性杜兴·德·布洛涅型肌病(DDB I型)的早期诊断与治疗。
Am J Phys Med. 1971 Dec;50(6):271-84.
7
[Treatment of myopathy at Duchenne de Boulogne: results obtained at specialized center].
Arch Fr Pediatr. 1968 Feb;25(2):163-79.
8
Platelet diphenoloxidases in progressive muscular dystrophy (P.M.D.).进行性肌营养不良症(P.M.D.)中的血小板双酚氧化酶
Clin Genet. 1973;4(2):79-90.
9
[Distribution of diphenoloxidases (DPOx) in various tissues of various animal species (author's transl)].[双酚氧化酶(DPOx)在不同动物物种各组织中的分布(作者译)]
Clin Chim Acta. 1975 Jun 2;61(2):219-27. doi: 10.1016/0009-8981(75)90318-6.
10
Progressive muscular dystrophy. Functional improvement after a renal allograft.进行性肌营养不良。同种异体肾移植后的功能改善。
J Neurol Sci. 1976 Nov;30(1):41-53. doi: 10.1016/0022-510x(76)90254-9.