• 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

Marble brain syndrome: osteopetrosis, renal acidosis and calcification of the brain.

作者信息

Jacquemin C, Mullaney P, Svedberg E

机构信息

King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

出版信息

Neuroradiology. 1998 Oct;40(10):662-3. doi: 10.1007/s002340050660.

DOI:10.1007/s002340050660
PMID:9833897
Abstract

Cerebral calcification in children is frequently associated with systemic metabolic disease. We present a case of "marble brain syndrome", which showed this abnormality.

摘要

相似文献

1
Marble brain syndrome: osteopetrosis, renal acidosis and calcification of the brain.
Neuroradiology. 1998 Oct;40(10):662-3. doi: 10.1007/s002340050660.
2
Marble brain disease in two Saudi Arabian siblings.两名沙特阿拉伯兄弟姐妹患大理石脑疾病。
Ann Trop Paediatr. 2005 Sep;25(3):213-8. doi: 10.1179/146532805X58175.
3
Intracranial calcification in children with osteopetrosis caused by carbonic anhydrase II deficiency.
Radiology. 1985 Nov;157(2):325-7. doi: 10.1148/radiology.157.2.2413500.
4
Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.12个患有常染色体隐性遗传的骨硬化症伴肾小管酸中毒和脑钙化综合征家庭中的碳酸酐酶II缺乏症
N Engl J Med. 1985 Jul 18;313(3):139-45. doi: 10.1056/NEJM198507183130302.
5
The syndrome of osteopetrosis, renal acidosis and cerebral calcification in two sisters.两姐妹患骨硬化症、肾小管性酸中毒和脑钙化综合征。
Neuropediatrics. 1988 Aug;19(3):162-5. doi: 10.1055/s-2008-1052422.
6
Case report 668. Carbonic anhydrase II deficiency syndrome (osteopetrosis associated with renal tubular acidosis and cerebral calcification).病例报告668. 碳酸酐酶II缺乏综合征（骨硬化症伴肾小管性酸中毒和脑钙化）
Skeletal Radiol. 1991;20(6):447-52. doi: 10.1007/BF00191090.
7
Cerebral calcification, osteopetrosis and renal tubular acidosis: is it carbonic anhydrase-II deficiency?脑钙化、骨硬化症和肾小管酸中毒：是碳酸酐酶II缺乏症吗？
Saudi J Kidney Dis Transpl. 2013 May;24(3):561-5. doi: 10.4103/1319-2442.111067.
8
Marble brain disease: recessive osteopetrosis, renal tubular acidosis and cerebral calcification in three Saudi Arabian families.大理石脑疾病：三个沙特阿拉伯家庭中的隐性骨硬化症、肾小管性酸中毒和脑钙化
Dev Med Child Neurol. 1980 Feb;22(1):72-84. doi: 10.1111/j.1469-8749.1980.tb04307.x.
9
Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification.碳酸酐酶 II 缺乏综合征：伴有肾小管酸中毒和脑钙化的隐性骨硬化症。
Pediatrics. 1986 Mar;77(3):371-81.
10
[Syndrome associating: osteopetrosis, tubular acidosis, mental retardation and cerebral calcifications due to carbonic anhydrase II deficiency. Apropos of 3 cases in the siblings].[综合征关联：由于碳酸酐酶II缺乏导致的骨硬化、肾小管性酸中毒、智力发育迟缓及脑钙化。关于3例同胞病例]
Arch Fr Pediatr. 1991 Mar;48(3):211-4.

引用本文的文献

1
A Case of Carbonic Anhydrase Type 2 Deficiency Syndrome with Autistic Disorder.一例伴有孤独症谱系障碍的2型碳酸酐酶缺乏综合征病例。
Noro Psikiyatr Ars. 2014 Jun;51(2):172-174. doi: 10.4274/npa.y6617. Epub 2014 Jun 1.
2
A case of infantile osteopetrosis: The radioclinical features with literature update.一例婴儿骨硬化症：放射临床特征及文献综述
Bone Rep. 2015 Nov 19;4:11-16. doi: 10.1016/j.bonr.2015.11.002. eCollection 2016 Jun.
3
Osteopetrosis, hypophosphatemia, and phosphaturia in a young man: a case presentation and differential diagnosis.
一名年轻男性的骨质石化症、低磷血症和磷尿症：病例报告及鉴别诊断
Case Rep Endocrinol. 2012;2012:238364. doi: 10.1155/2012/238364. Epub 2012 Feb 9.
4
Osteopetrosis.骨质石化症
Orphanet J Rare Dis. 2009 Feb 20;4:5. doi: 10.1186/1750-1172-4-5.