• 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

相似文献

1
Teaching NeuroImage: A New Imaging Finding in a Boy With Salla Disease Caused by a Pathogenic Variant in the Gene.教学神经影像:一名患有由该基因致病变异导致的萨拉病男孩的新影像发现
Neurology. 2023 Oct 3;101(14):631-632. doi: 10.1212/WNL.0000000000207546. Epub 2023 Aug 1.
2
Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.鉴定出SLC17A5基因中的一个大型内含子转座插入导致唾液酸贮积病。
Orphanet J Rare Dis. 2017 Feb 10;12(1):28. doi: 10.1186/s13023-017-0584-6.
3
Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.美国单卵双生女性同胞中的萨莱表型唾液酸贮积病。
Am J Med Genet A. 2003 Jul 1;120A(1):23-7. doi: 10.1002/ajmg.a.10246.
4
A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease.伴有低髓鞘化的中间严重 Salla 病新患者:Salla 病文献复习。
Pediatr Neurol. 2017 Sep;74:87-91.e2. doi: 10.1016/j.pediatrneurol.2017.05.022. Epub 2017 Jun 1.
5
Salla disease and ISSD--what does the future hold?萨勒病和婴儿期致死性神经元蜡样脂褐质沉积症——未来会怎样?
Mol Genet Metab. 2004 Jun;82(2):99-100. doi: 10.1016/j.ymgme.2004.04.002.
6
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.SLC17A5基因p.K136E突变纯合性是意大利严重萨勒病的病因
Neurogenetics. 2005 Dec;6(4):195-9. doi: 10.1007/s10048-005-0011-3. Epub 2005 Sep 17.
7
Free sialic acid storage disorder: Progress and promise.游离唾液酸贮积症:进展与前景。
Neurosci Lett. 2021 Jun 11;755:135896. doi: 10.1016/j.neulet.2021.135896. Epub 2021 Apr 20.
8
Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene.一名患有婴儿型游离唾液酸贮积病(ISSD)且SLC17A5基因存在新突变患者的低丙种球蛋白血症及影像学特征
J Pediatr Endocrinol Metab. 2018 Oct 25;31(10):1155-1159. doi: 10.1515/jpem-2017-0397.
9
A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred.SLC17A5基因中的一种新型突变导致一个近亲贝都因家族出现游离唾液酸贮积病的严重和轻度表型。
Mol Genet Metab. 2004 Jun;82(2):167-72. doi: 10.1016/j.ymgme.2004.03.005.
10
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.北美儿童婴儿型游离唾液酸贮积病的生化与分子分析
Am J Med Genet A. 2003 Jul 1;120A(1):28-33. doi: 10.1002/ajmg.a.20024.

本文引用的文献

1
Neuroimaging Findings in Lysosomal Disorders: 2018 Update.溶酶体疾病的神经影像学研究结果:2018年更新
Top Magn Reson Imaging. 2018 Aug;27(4):259-274. doi: 10.1097/RMR.0000000000000174.
2
Synthesis and characterization of a paramagnetic sialic acid conjugate as probe for magnetic resonance applications.合成和表征一种顺磁唾液酸缀合物作为磁共振应用的探针。
Carbohydr Res. 2012 Jun 1;354:21-31. doi: 10.1016/j.carres.2012.03.002. Epub 2012 Mar 17.

Teaching NeuroImage: A New Imaging Finding in a Boy With Salla Disease Caused by a Pathogenic Variant in the Gene.

作者信息

Gupta Juhi, Reddy Nihaal, Mankad Kshitij, Kabra Utkarsh, Bhandari Anu, Bagarhatta Meenu, Gupta Ashok

机构信息

From the Sawai Man Singh Medical College (J.G., A.B., M.B., A.G.), Jaipur; Rainbow Children's Hospital (N.R.), Hyderabad, India; Great Ormond Street Hospital for Children (K.M.), London, United Kingdom; and Getwell Poly Clinic and Hospital (U.K.), Jaipur, India.

出版信息

Neurology. 2023 Oct 3;101(14):631-632. doi: 10.1212/WNL.0000000000207546. Epub 2023 Aug 1.

DOI:10.1212/WNL.0000000000207546
PMID:37527937
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10573145/
Abstract
摘要