• 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

Hypercalcaemia in glycogen storage disease type Ia: a case with R83H and 341delG mutations.

作者信息

Hwu W L, Chiang S C, Huang S F, Chang M H, Wen W H, Wang T R

机构信息

Department of Pediatrics, National Taiwan University Hospital, Taipei, ROC.

出版信息

J Inherit Metab Dis. 1999 Dec;22(8):937-8. doi: 10.1023/a:1005651809892.

DOI:10.1023/a:1005651809892
PMID:10604148
Abstract
摘要

相似文献

1
Hypercalcaemia in glycogen storage disease type Ia: a case with R83H and 341delG mutations.Ia型糖原贮积病中的高钙血症：一例伴有R83H和341delG突变的病例
J Inherit Metab Dis. 1999 Dec;22(8):937-8. doi: 10.1023/a:1005651809892.
2
Hypercalcemia in glycogen storage disease type I patients of Turkish origin.土耳其裔I型糖原贮积病患者的高钙血症
Turk J Pediatr. 2012 Jan-Feb;54(1):35-7.
3
Molecular genetics of glycogen-storage disease type 1a in Chinese patients of Taiwan.台湾华裔1a型糖原贮积病的分子遗传学
Mol Genet Metab. 2001 Feb;72(2):175-80. doi: 10.1006/mgme.2000.3129.
4
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.
5
Molecular genetic analysis of glycogen storage disease type Ia in 26 Chinese patients.26例中国糖原贮积病Ia型患者的分子遗传学分析
J Inherit Metab Dis. 2003;26(8):811-2. doi: 10.1023/b:boli.0000009992.78840.77.
6
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.
7
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.
8
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.
9
Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients.法国Ia型糖原贮积病的遗传异质性：48例患者的研究
Hum Mutat. 2000 Nov;16(5):444. doi: 10.1002/1098-1004(200011)16:5<444::AID-HUMU10>3.0.CO;2-F.
10
Tophaceous gout in a female premenopausal patient with an unexpected diagnosis of glycogen storage disease type Ia: a case report and literature review.一名绝经前女性患者患痛风石性痛风，意外诊断为Ia型糖原贮积病：病例报告及文献复习
Clin Rheumatol. 2016 Nov;35(11):2851-2856. doi: 10.1007/s10067-016-3290-1. Epub 2016 May 2.

引用本文的文献

1
Glycogen Storage Disease Type I With Hypercalcemia in an Infant: A Case Report.婴儿I型糖原贮积病伴高钙血症：一例报告
Cureus. 2023 Oct 13;15(10):e46987. doi: 10.7759/cureus.46987. eCollection 2023 Oct.
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.

本文引用的文献

1
Nephrolithiasis, hypocitraturia, and a distal renal tubular acidification defect in type 1 glycogen storage disease.1型糖原贮积病中的肾结石、低枸橼酸尿症和远端肾小管酸化缺陷。
J Pediatr. 1993 Mar;122(3):392-6. doi: 10.1016/s0022-3476(05)83422-5.
2
Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia.葡萄糖-6-磷酸酶基因G327A突变在中国I型糖原贮积病患者中很常见。
Hum Mol Genet. 1995 Jun;4(6):1095-6. doi: 10.1093/hmg/4.6.1095.