• 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

Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8.

作者信息

Anselm Irina A, Coulter David L, Darras Basil T

机构信息

Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, USA.

出版信息

Neurology. 2008 Apr 29;70(18):1642-4. doi: 10.1212/01.wnl.0000310987.04106.45.

DOI:10.1212/01.wnl.0000310987.04106.45
PMID:18443316
Abstract
摘要

相似文献

1
Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8.一名患有肌酸转运蛋白基因SLC6A8新突变儿童的心脏表现
Neurology. 2008 Apr 29;70(18):1642-4. doi: 10.1212/01.wnl.0000310987.04106.45.
2
Severe epilepsy in X-linked creatine transporter defect (CRTR-D).X连锁肌酸转运体缺陷（CRTR-D）中的严重癫痫
Epilepsia. 2007 Jun;48(6):1211-3. doi: 10.1111/j.1528-1167.2007.01148.x.
3
Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.肌酸转运蛋白基因（SLC6A8）错义变异的功能特征：改进的诊断应用
Hum Mutat. 2007 Sep;28(9):890-6. doi: 10.1002/humu.20532.
4
A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene.一例与轻度临床表型相关的肌酸转运体缺乏症新病例及SLC6A8基因的一个新突变。
Dev Med Child Neurol. 2010 Feb;52(2):215-7. doi: 10.1111/j.1469-8749.2009.03480.x. Epub 2009 Nov 30.
5
Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing.通过下一代测序检测肌酸转运体基因中的新型基因内重排。
Mol Genet Metab. 2013 Dec;110(4):465-71. doi: 10.1016/j.ymgme.2013.09.018. Epub 2013 Oct 4.
6
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.X 连锁肌酸转运蛋白缺陷症 101 例男性的表型与基因型。
J Med Genet. 2013 Jul;50(7):463-72. doi: 10.1136/jmedgenet-2013-101658. Epub 2013 May 3.
7
Creatine biosynthesis and transport in health and disease.健康与疾病状态下的肌酸生物合成及转运
Biochimie. 2015 Dec;119:146-65. doi: 10.1016/j.biochi.2015.10.022. Epub 2015 Nov 2.
8
X-linked creatine transporter deficiency presenting as a mitochondrial disorder.表现为线粒体疾病的X连锁肌酸转运体缺乏症
J Child Neurol. 2010 Aug;25(8):1009-12. doi: 10.1177/0883073809352109. Epub 2010 May 25.
9
Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review.原发性肌酸缺乏症在精神运动发育迟缓伴发癫痫的儿童中可能被漏诊：伴有两种新变异型的病例报告及文献复习
Acta Neurol Belg. 2020 Jun;120(3):511-516. doi: 10.1007/s13760-019-01168-6. Epub 2019 Jun 20.
10
X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation.X连锁肌酸转运体缺乏症：一例携带新型SLC6A8基因突变患者的临床描述
Neurogenetics. 2005 Sep;6(3):165-8. doi: 10.1007/s10048-005-0002-4. Epub 2005 Sep 28.

引用本文的文献

1
Maintaining energy provision in the heart: the creatine kinase system in ischaemia-reperfusion injury and chronic heart failure.维持心脏的能量供应：缺血再灌注损伤和慢性心力衰竭中的肌酸激酶系统。
Clin Sci (Lond). 2024 Apr 24;138(8):491-514. doi: 10.1042/CS20230616.
2
Case Report: X-Linked Creatine Transporter Deficiency in Two Saudi Brothers with Autism.病例报告：两名患有自闭症的沙特兄弟中的X连锁肌酸转运体缺乏症
J Autism Dev Disord. 2023 Mar;53(3):1273-1278. doi: 10.1007/s10803-022-05860-0. Epub 2022 Dec 15.
3
SLC6A8 is involved in the progression of non-small cell lung cancer through the Notch signaling pathway.
溶质载体家族6成员8（SLC6A8）通过Notch信号通路参与非小细胞肺癌的进展。
Ann Transl Med. 2021 Feb;9(3):264. doi: 10.21037/atm-20-5984.
4
Hyperinsulinemia shifted energy supply from glucose to ketone bodies in early nonalcoholic steatohepatitis from high-fat high-sucrose diet induced Bama minipigs.在高脂高糖饮食诱导的巴马小型猪早期非酒精性脂肪性肝炎中，高胰岛素血症使能量供应从葡萄糖转向酮体。
Sci Rep. 2015 Sep 11;5:13980. doi: 10.1038/srep13980.
5
X-linked creatine transporter deficiency: clinical aspects and pathophysiology.X连锁肌酸转运体缺乏症：临床特征与病理生理学
J Inherit Metab Dis. 2014 Sep;37(5):715-33. doi: 10.1007/s10545-014-9713-8. Epub 2014 May 1.
6
Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency.精氨酸治疗肌酸转运缺陷儿童的神经心理学特征和临床效果。
Orphanet J Rare Dis. 2012 Jun 19;7:43. doi: 10.1186/1750-1172-7-43.
7
Downregulation of the creatine transporter SLC6A8 by JAK2.肌酸转运蛋白 SLC6A8 受 JAK2 下调。
J Membr Biol. 2012 Mar;245(3):157-63. doi: 10.1007/s00232-012-9424-8. Epub 2012 Mar 11.
8
Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.9 名 X 连锁肌氨酸转运蛋白缺陷男孩的长期随访和治疗。
J Inherit Metab Dis. 2012 Jan;35(1):141-9. doi: 10.1007/s10545-011-9345-1. Epub 2011 May 10.