• 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

[Three congenital metabolic diseases in the Faeroe Islands. Incidence, clinical and molecular genetic characteristics of Faeroese children with glycogen storage disease type IIIA, carnitine transporter deficiency and holocarboxylase synthetase deficiency].

作者信息

Joensen Frodi, Steuerwald Elisabeth Ulrike, Rasmussen Niels H

机构信息

Børneafdelingen, Amtssygehuset i Gentofte, DK-2900 Hellerup.

出版信息

Ugeskr Laeger. 2006 Feb 13;168(7):667-70.

PMID:16494802
Abstract

The Faeroe Islands has a high incidence of glycogen storage disease type III A, carnitine transporter deficiency and holocarboxylase synthetase deficiency. In the article the incidence, symptoms and gene mutations for these three inborn errors of metabolism are reviewed both in general and in specific for children in the Faeroe Islands. None of the mutations for the three diseases is particularly frequent, but all children in the Faeroe Islands with one of the three metabolic diseases are homozygous for one specific mutation, which must be due to a founder effect.

摘要

相似文献

1
[Three congenital metabolic diseases in the Faeroe Islands. Incidence, clinical and molecular genetic characteristics of Faeroese children with glycogen storage disease type IIIA, carnitine transporter deficiency and holocarboxylase synthetase deficiency].
Ugeskr Laeger. 2006 Feb 13;168(7):667-70.
2
Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands.法罗群岛III型糖原贮积病的分子遗传基础及患病率
Eur J Hum Genet. 2001 May;9(5):388-91. doi: 10.1038/sj.ejhg.5200632.
3
[Carnitine transporter deficiency in two Faeroese children].
Ugeskr Laeger. 2004 Dec 6;166(50):4612-3.
4
[Diagnosis, treatment and gene mutation analysis in children with holocarboxylase synthetas deficiency].全羧化酶合成酶缺乏症患儿的诊断、治疗及基因突变分析
Zhongguo Dang Dai Er Ke Za Zhi. 2009 Aug;11(8):609-12.
5
Holocarboxylase synthetase deficiency: novel clinical and molecular findings.全羧化酶合成酶缺乏症:新的临床和分子学发现。
Clin Genet. 2010 Jul;78(1):88-93. doi: 10.1111/j.1399-0004.2009.01357.x. Epub 2009 Dec 2.
6
Holocarboxylase synthetase deficiency: report of one case.全羧化酶合成酶缺乏症:1例报告。
Acta Paediatr Taiwan. 2006 Nov-Dec;47(6):309-11.
7
[Carnitine deficiency syndrome. Two cases].
Minerva Pediatr. 1991 Jul-Aug;43(7-8):511-6.
8
Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands.法罗群岛的肉碱转运体和全羧化酶合成酶缺乏症
J Inherit Metab Dis. 2007 Jun;30(3):341-9. doi: 10.1007/s10545-007-0527-9. Epub 2007 Apr 6.
9
[Morphology of metabolic myopathies].[代谢性肌病的形态学]
Monatsschr Kinderheilkd. 1984 Aug;132(8):574-80.
10
A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy.1例全羧化酶合成酶缺乏症患者,对产前生物素治疗反应不足。
Brain Dev. 2009 Nov;31(10):775-8. doi: 10.1016/j.braindev.2008.12.016. Epub 2009 Feb 6.

引用本文的文献

1
Whole-exome sequencing of individuals from an isolated population implicates rare risk variants in bipolar disorder.对一个隔离人群个体进行的全外显子组测序表明双相情感障碍存在罕见风险变异。
Transl Psychiatry. 2017 Feb 14;7(2):e1034. doi: 10.1038/tp.2017.3.
2
Semen quality and reproductive hormones in Faroese men: a cross-sectional population-based study of 481 men.法罗群岛男性的精液质量和生殖激素:481 名男性的横断面基于人群的研究。
BMJ Open. 2013 Mar 1;3(3):e001946. doi: 10.1136/bmjopen-2012-001946.