• 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

The syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and dwarfism.

作者信息

Shmerling D H, Prader A, Hitzig W H, Giedion A, Hadorn B, Kühni M

出版信息

Helv Paediatr Acta. 1969 Dec;24(6):547-75.

PMID:5370796
Abstract
摘要

相似文献

1
The syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and dwarfism.外分泌性胰腺功能不全、中性粒细胞减少、干骺端发育不良和侏儒症综合征。
Helv Paediatr Acta. 1969 Dec;24(6):547-75.
2
[Shwachman syndrome (pancreatic insufficiency, neutropenia, metaphyseal dysplasia and dwarfism)].
Ned Tijdschr Geneeskd. 1971 Nov 27;115(48):2012-7.
3
[Exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and retarded growth (Shwachman's syndrome)].
Dtsch Med Wochenschr. 1972 Jun 9;97(23):902-6. doi: 10.1055/s-0028-1107466.
4
[Exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and growth retardation (Shwachman syndrome) with transient disturbances of carbohydrate metabolism].
Z Gesamte Inn Med. 1974 Apr 15;29(8):337-9.
5
Peripheral dysostosis associated with juvenile nephronophthisis.
Br J Radiol. 1975 Sep;48(573):765-6. doi: 10.1259/0007-1285-48-573-765.
6
Unusual bone changes in exocrine pancreas insufficiency with cyclic neutropenia.外分泌性胰腺功能不全伴周期性中性粒细胞减少症时的异常骨改变。
Acta Radiol Diagn (Stockh). 1972 Jul;12(4):428-32. doi: 10.1177/028418517201200404.
7
Electron microscopic examination of cartilage in the syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and dwarfism.外分泌性胰腺功能不全、中性粒细胞减少、干骺端发育不良和侏儒症综合征中软骨的电子显微镜检查。
Helv Paediatr Acta. 1974 Nov;29(5):471-9.
8
[Hereditary systemic diseases of the skeleton].[遗传性骨骼系统疾病]
Radiologe. 1973 Apr;13(4):141-6.
9
Metaphyseal dysostosis and the associated syndrome of pancreatic insufficiency and blood disorders.
Radiology. 1969 Sep;93(3):563-71. doi: 10.1148/93.3.563.
10
Juvenile nephronophthisis associated with skeletal abnormalities and hepatic fibrosis.青少年肾单位肾痨伴骨骼异常和肝纤维化。
Arch Dis Child. 1976 Oct;51(10):799-801. doi: 10.1136/adc.51.10.799.

引用本文的文献

1
Shwachman-Bodian-Diamond syndrome: metaphyseal chondrodysplasia in children with pancreatic insufficiency and neutropenia.施瓦赫曼-博迪安-戴蒙德综合征：伴有胰腺功能不全和中性粒细胞减少症儿童的干骺端软骨发育不良。
Pediatr Radiol. 2015 Jul;45(7):1066-71. doi: 10.1007/s00247-014-3231-6. Epub 2014 Nov 23.
2
Endocrine evaluation of children with and without Shwachman-Bodian-Diamond syndrome gene mutations and Shwachman-Diamond syndrome.伴有和不伴有 Shwachman-Bodian-Diamond 综合征基因突变及 Shwachman-Diamond 综合征患儿的内分泌评估。
J Pediatr. 2013 Jun;162(6):1235-40, 1240.e1. doi: 10.1016/j.jpeds.2012.11.062. Epub 2013 Jan 8.
3
A rare case: Shwachman-Diamond syndrome presenting with diabetic ketoacidosis.
罕见病例：以糖尿病酮症酸中毒为表现的施瓦茨曼-戴蒙德综合征。
Endocrine. 2011 Aug;40(1):146-7. doi: 10.1007/s12020-011-9460-7.
4
Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.伴有外分泌胰腺功能障碍和骨髓衰竭的施瓦赫曼-戴蒙德综合征定位于7号染色体的着丝粒区域。
Am J Hum Genet. 2001 Apr;68(4):1048-54. doi: 10.1086/319505. Epub 2001 Mar 15.
5
Segregation analysis in Shwachman-Diamond syndrome: evidence for recessive inheritance.施瓦赫曼-戴蒙德综合征的分离分析：隐性遗传的证据。
Am J Hum Genet. 2000 Apr;66(4):1413-6. doi: 10.1086/302856. Epub 2000 Mar 14.
6
Shwachman's syndrome. A review of 21 cases.施瓦赫曼综合征。21例病例综述。
Arch Dis Child. 1980 May;55(5):331-47. doi: 10.1136/adc.55.5.331.
7
Constant defect in neutrophil locomotion but with age decreasing susceptibility to infection in Shwachman syndrome.施瓦茨曼综合征存在中性粒细胞运动的持续性缺陷，但随着年龄增长对感染的易感性降低。
Clin Exp Immunol. 1984 Jul;57(1):249-55.
8
Pancreatic exocrine enzyme deficiency associated with asphyxiating thoracic dystrophy.与窒息性胸廓发育不良相关的胰腺外分泌酶缺乏症。
Arch Dis Child. 1973 Feb;48(2):143-6. doi: 10.1136/adc.48.2.143.
9
Metaphyseal chondrodysplasia with dwarfism, pancreatic insufficiency and neutropenia.
Pediatr Radiol. 1973 Jul;1(2):119-26. doi: 10.1007/BF00973227.
10
International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.骨软骨发育不良的国际分类。国际骨骼先天性疾病工作组。
Eur J Pediatr. 1992 Jun;151(6):407-15. doi: 10.1007/BF01959352.