• 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

表现为癫痫发作的假性甲状旁腺功能减退症家族

Families of Pseudohypoparathyroidism presenting as Seizure.

作者信息

Nand N, Aggarwal S, Yadav M, Dsouza S, Deshmukh A R

机构信息

Senior Professor and Unit Head.

Associate Professor.

出版信息

J Assoc Physicians India. 2015 Oct;63(10):71-4.

PMID:27608698
Abstract

Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders characterized by variable insensitivity to parathyroid hormone. We describe two cases of 22 year male and 24 year female who have typical clinical features of Albright's hereditary osteodystrophy (AHO). Laboratory investigation revealed evidence of pseudohypoparathyroidism and skeletal survey showed shortening of the metacarpals and metatarsals.

摘要

假性甲状旁腺功能减退症(PHP)是一组异质性疾病,其特征是对甲状旁腺激素存在不同程度的不敏感性。我们描述了两例患者,分别为22岁男性和24岁女性,他们具有典型的奥尔布赖特遗传性骨营养不良(AHO)临床特征。实验室检查显示有假性甲状旁腺功能减退症的证据,骨骼检查显示掌骨和跖骨缩短。

相似文献

1
Families of Pseudohypoparathyroidism presenting as Seizure.表现为癫痫发作的假性甲状旁腺功能减退症家族
J Assoc Physicians India. 2015 Oct;63(10):71-4.
2
Molecular diagnosis and clinical characterization of pseudohypoparathyroidism type-Ib in a patient with mild Albright's hereditary osteodystrophy-like features, epileptic seizures, and defective renal handling of uric acid.一名具有轻度类奥尔布赖特遗传性骨营养不良特征、癫痫发作及尿酸肾脏处理缺陷的患者的I b型假性甲状旁腺功能减退症的分子诊断与临床特征
Am J Med Sci. 2008 Jul;336(1):84-90. doi: 10.1097/MAJ.0b013e31815b218f.
3
Albright's hereditary osteodystrophy.奥尔布赖特遗传性骨营养不良症
J Pediatr Endocrinol Metab. 2006 May;19 Suppl 2:671-3. doi: 10.1515/jpem.2006.19.s2.671.
4
Acrophobia in a Young Girl with Parathyroid Hormone Resistance (Pseudohypoparathyroidism).一名患有甲状旁腺激素抵抗(假性甲状旁腺功能减退症)的年轻女孩的恐高症
J Coll Physicians Surg Pak. 2018 Sep;28(9):S166-S168. doi: 10.29271/jcpsp.2018.09.S166.
5
Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy.假性甲状旁腺功能减退症患者GNAS的表观遗传缺陷及Albright遗传性骨营养不良的轻微特征
J Clin Endocrinol Metab. 2007 Jun;92(6):2370-3. doi: 10.1210/jc.2006-2287. Epub 2007 Apr 3.
6
[Clinical features of two cases of pseudohypoparathyroidism (ia and ib) and molecular analysis of GNAS].两例假甲状旁腺功能减退症(ia型和ib型)的临床特征及GNAS基因的分子分析
An Pediatr (Barc). 2013 Nov;79(5):319-24. doi: 10.1016/j.anpedi.2013.03.012. Epub 2013 Apr 26.
7
Pseudohypoparathyroidism-A Rare Cause of Seizures in a Young Male.假性甲状旁腺功能减退症——青年男性癫痫发作的罕见病因
J Assoc Physicians India. 2023 Jan;71(1):1.
8
Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1.奥尔布赖特遗传性骨营养不良(假性甲状旁腺功能减退症Ia型):一例伴有GNAS1基因新突变的临床病例
Acta Biomed. 2005 Apr;76(1):45-8.
9
Hypocalcemic Recurrent Generalized Seizures with Bilateral Basal Ganglia and Frontal Calcification as the Initial Manifestation of Albright's Hereditary Osteodystrophy in a Child: A Pictorial and Video-graphic Representations.以双侧基底节和额叶钙化作为儿童奥尔布赖特遗传性骨营养不良初始表现的低钙血症性反复全身性癫痫发作:图片和视频展示
J Pediatr Neurosci. 2019 Oct-Dec;14(4):232-235. doi: 10.4103/jpn.JPN_86_19. Epub 2019 Dec 3.
10
Familial Albright's hereditary osteodystrophy with hypoparathyroidism: normal structural Gs alpha gene.伴有甲状旁腺功能减退的家族性奥尔布赖特遗传性骨营养不良:结构正常的Gsα基因
J Clin Endocrinol Metab. 1996 Apr;81(4):1660-2. doi: 10.1210/jcem.81.4.8636385.

引用本文的文献

1
Association of promoter methylation status of NRF2 and PNPLA3 genes in alcoholic liver disease.NRF2 和 PNPLA3 基因启动子甲基化状态与酒精性肝病的关系。
Indian J Gastroenterol. 2022 Dec;41(6):618-626. doi: 10.1007/s12664-022-01274-z. Epub 2023 Jan 18.