• 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

Congenital pyloric atresia, type B; with junctional epidermolysis bullosa.

作者信息

Farmakis S G, Herman T E, Siegel M J

机构信息

Mallinckrodt Institute of Radiology, St Louis Children's Hospital, Washington University School of Medicine, St Louis, MO, USA.

出版信息

J Perinatol. 2014 Jul;34(7):572-3. doi: 10.1038/jp.2014.7.

DOI:10.1038/jp.2014.7
PMID:24968903
Abstract
摘要

相似文献

1
Congenital pyloric atresia, type B; with junctional epidermolysis bullosa.
J Perinatol. 2014 Jul;34(7):572-3. doi: 10.1038/jp.2014.7.
2
A Nonlethal Case of Junctional Epidermolysis Bullosa and Congenital Pyloric Atresia: Compound Heterozygosity in a Patient with a Novel Integrin Beta 4 Gene Mutation.交界性大疱性表皮松解症合并先天性幽门闭锁的非致死性病例：具有新型整合素β4 基因突变的患者的复合杂合性。
J Pediatr. 2018 Feb;193:261-264.e1. doi: 10.1016/j.jpeds.2017.09.023. Epub 2017 Dec 1.
3
A case of congenital pyloric atresia with dystrophic epidermolysis bullosa.一例先天性幽门闭锁合并营养不良性大疱性表皮松解症。
Pediatr Surg Int. 2014 Jun;30(6):681-4. doi: 10.1007/s00383-014-3505-y. Epub 2014 Apr 30.
4
Pyloric atresia: an attempt at anatomic pyloric sphincter reconstruction.幽门闭锁：解剖学幽门括约肌重建的尝试。
J Pediatr Surg. 2000 Sep;35(9):1372-4. doi: 10.1053/jpsu.2000.9340.
5
Gastric outlet obstruction and epidermolysis bullosa.胃出口梗阻与大疱性表皮松解症。
J Am Acad Dermatol. 1997 Feb;36(2 Pt 2):304-10. doi: 10.1016/s0190-9622(97)80404-5.
6
Pyloric atresia--three cases and review of literature.先天性幽门闭锁——三例报告并文献复习
Afr J Paediatr Surg. 2014 Oct-Dec;11(4):362-5. doi: 10.4103/0189-6725.143178.
7
Gastric outlet obstruction and gastric infarct in junctional epidermolysis bullosa.
Pediatr Dermatol. 1995 Jun;12(2):174-7. doi: 10.1111/j.1525-1470.1995.tb00148.x.
8
Congenital pyloric atresia associated with epidermolysis bullosa junctionalis: a novel lethal variant.先天性幽门闭锁伴交界性大疱性表皮松解症：一种新的致死性变异。
BMJ Case Rep. 2024 Jul 29;17(7):e260488. doi: 10.1136/bcr-2024-260488.
9
ITGB4-mutated Junctional Epidermolysis Bullosa without Pyloric Atresia Presenting with Severe Urinary Involvement and Late-onset Minimal Skin Fragility: Diagnostic and Therapeutic Challenges.无幽门闭锁的ITGB4突变型交界性大疱性表皮松解症伴严重泌尿系统受累及迟发性轻微皮肤脆性：诊断与治疗挑战
Acta Derm Venereol. 2022 May 10;102:adv00706. doi: 10.2340/actadv.v102.935.
10
Epidermolysis bullosa letalis with pyloric atresia in an infant.
J Formos Med Assoc. 1996 Jan;95(1):61-5.

引用本文的文献

1
Case report: A case of epidermolysis bullosa complicated with pyloric atresia and a literature review.病例报告：一例大疱性表皮松解症合并幽门闭锁病例及文献复习
Front Pediatr. 2023 Mar 23;11:1098273. doi: 10.3389/fped.2023.1098273. eCollection 2023.
2
Epidermolysis bullosa with pyloric atresia: Report of two cases in consecutive siblings.大疱性表皮松解症合并幽门闭锁：连续同胞中两例报告。
Biomedica. 2021 Jun 29;41(2):201-207. doi: 10.7705/biomedica.5401.

本文引用的文献

1
Hereditary multiple intestinal atresias: 2 new cases and review of the literature.遗传性多发性肠闭锁：2 例新病例及文献复习。
J Pediatr Surg. 2010 Apr;45(4):E21-4. doi: 10.1016/j.jpedsurg.2010.01.017.
2
Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature.伴有整合素β4（ITGB4）突变的交界型大疱性表皮松解症中幽门闭锁的差异表达表明，幽门闭锁是由突变以外的因素引起的，且不能预测不良预后：三个新突变及文献综述
Acta Derm Venereol. 2008;88(5):438-48. doi: 10.2340/00015555-0484.
3
Congenital pyloric atresia and associated anomalies.
先天性幽门闭锁及相关畸形。
Pediatr Surg Int. 2007 Jun;23(6):559-63. doi: 10.1007/s00383-007-1903-0. Epub 2007 Mar 28.
4
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.大疱性表皮松解症。I. 交界型和半桥粒型变体的分子遗传学。
J Med Genet. 2006 Aug;43(8):641-52. doi: 10.1136/jmg.2005.039685. Epub 2006 Feb 10.
5
Pyloric atresia: 15-year review from a single institution.
J Pediatr Surg. 2003 Nov;38(11):1581-4. doi: 10.1016/s0022-3468(03)00565-7.
6
Pyloric atresia: report of two cases (one associated with epidermolysis bullosa and one associated with multiple intestinal atresias).
Pediatr Radiol. 2002 Aug;32(8):552-5. doi: 10.1007/s00247-002-0716-5. Epub 2002 May 22.
7
Pyloric atresia: five new cases, a new association, and a review of the literature with guidelines.幽门闭锁：5例新病例、一种新关联及文献综述与指南
J Pediatr Surg. 2000 Aug;35(8):1242-5. doi: 10.1053/jpsu.2000.8762.
8
Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease.大疱性表皮松解症、先天性幽门闭锁、先天性皮肤发育不全：一种常染色体隐性疾病的组织病理学描述
Am J Med Genet. 1998 Jun 30;78(2):127-33.
9
Epidermolysis bullosa associated with congenital localized absence of skin, fetal abdominal mass, and pyloric atresia.大疱性表皮松解症伴先天性局限性皮肤缺失、胎儿腹部肿块和幽门闭锁。
Pediatr Dermatol. 1997 Sep-Oct;14(5):359-62. doi: 10.1111/j.1525-1470.1997.tb00981.x.