• 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

1例Ia型糖原贮积病合并多发肝腺瘤及葡萄糖-6-磷酸酶基因G727T突变，并与先前报道的其他突变进行比较。

A case of glycogen storage disease type Ia with multiple hepatic adenomas and G727T mutation in the glucose-6-phosphatase gene, and a comparison with other mutations previously reported.

作者信息

Karasawa Y, Kobayashi M, Nakano Y, Aoki Y, Kawa S, Kiyosawa K, Seki H, Kawasaki S, Furihata K, Itoh N

机构信息

2nd Department of Internal Medicine, Shinshu University, School of Medicine, Matsumoto, Japan.

出版信息

Am J Gastroenterol. 1998 Sep;93(9):1550-3. doi: 10.1111/j.1572-0241.1998.00480.x.

DOI:10.1111/j.1572-0241.1998.00480.x
PMID:9732943
Abstract

We report a case of 23-yr-old man with glycogen storage disease (GSD) type Ia complicated by multiple hepatic adenomas. Analysis of the G-6-Pase gene using peripheral blood sample showed this patient to be homozygous for a G-to-T transversion at nucleotide 727 in exon 5. This mutation is prevalent among Japanese patients, suggesting that specific genotypes may correlate with different clinical courses or outcomes.

摘要

我们报告一例23岁男性糖原贮积病（GSD）Ia型并发多发性肝腺瘤的病例。利用外周血样本对葡萄糖-6-磷酸酶（G-6-Pase）基因进行分析，结果显示该患者第5外显子727位核苷酸处发生G到T的颠换，呈纯合子状态。这种突变在日本患者中很常见，提示特定基因型可能与不同的临床病程或结局相关。

相似文献

1
A case of glycogen storage disease type Ia with multiple hepatic adenomas and G727T mutation in the glucose-6-phosphatase gene, and a comparison with other mutations previously reported.1例Ia型糖原贮积病合并多发肝腺瘤及葡萄糖-6-磷酸酶基因G727T突变，并与先前报道的其他突变进行比较。
Am J Gastroenterol. 1998 Sep;93(9):1550-3. doi: 10.1111/j.1572-0241.1998.00480.x.
2
Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia.日本糖原贮积病Ia型患者葡萄糖-6-磷酸酶基因的异质性突变
Am J Med Genet. 2000 May 15;92(2):90-4.
3
Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.Ia型糖原贮积病：51例日本患者的分子诊断及通过分析淋巴母细胞样细胞中异位转录的mRNA对剪接突变进行特征分析
Am J Med Genet. 2000 Mar 13;91(2):107-12.
4
Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.葡萄糖-6-磷酸酶基因的突变谱及其在韩国Ia型糖原贮积病患者分子诊断中的意义。
Clin Genet. 2004 Jun;65(6):487-9. doi: 10.1111/j.1399-0004.2004.00260.x.
5
[Heterogeneous phenotypes in Chinese glycogen storage disease type Ia patients with homozygous G727T mutation].[中国糖原贮积病Ia型纯合子G727T突变患者的异质性表型]
Zhonghua Er Ke Za Zhi. 2003 Apr;41(4):252-5.
6
A case of type Ia glycogen storage disease complicated by hepatic adenoma.1型糖原贮积病合并肝腺瘤1例。
Hepatogastroenterology. 1990 Aug;37(4):432-5.
7
Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5.捷克和斯洛伐克糖原贮积病Ia型患者葡萄糖-6-磷酸酶基因突变的鉴定，包括新突变K76N、V166A和540del5。
Hum Mutat. 2000 Jul;16(1):89. doi: 10.1002/1098-1004(200007)16:1<89::AID-HUMU17>3.0.CO;2-A.
8
An adult male patient with multiple adenomas and a hepatocellular carcinoma: mild glycogen storage disease type Ia.一名成年男性患者，患有多发性腺瘤和肝细胞癌：轻度Ⅰa 型糖原贮积病。
J Hepatol. 2010 Jul;53(1):213-7. doi: 10.1016/j.jhep.2010.03.002. Epub 2010 Apr 10.
9
Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia. Mutation in brief no. 256. Online.糖原贮积病 Ia 型患者葡萄糖-6-磷酸酶基因中三个新突变（Q54P、W70X 和 T108I）的鉴定。简讯编号 256。在线版。
Hum Mutat. 1999;14(1):91. doi: 10.1002/(SICI)1098-1004(1999)14:1<91::AID-HUMU21>3.0.CO;2-B.
10
Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.葡萄糖-6-磷酸酶基因中突变的鉴定，该酶在1a型糖原贮积病中缺乏。
J Clin Invest. 1994 May;93(5):1994-9. doi: 10.1172/JCI117192.

引用本文的文献

1
A case report of acute pancreatitis with glycogen storage disease type IA in an adult patient and review of the literature.一名成年糖原贮积病IA型合并急性胰腺炎患者的病例报告及文献复习
Medicine (Baltimore). 2020 Oct 16;99(42):e22644. doi: 10.1097/MD.0000000000022644.
2
Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.导致Ia型糖原贮积病的葡萄糖-6-磷酸酶-α（G6PC）基因突变。
Hum Mutat. 2008 Jul;29(7):921-30. doi: 10.1002/humu.20772.