• 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

Neonatal cholestatic liver disease in an Asian patient with a homozygous mutation in the oxysterol 7alpha-hydroxylase gene.

作者信息

Ueki Isao, Kimura Akihiko, Nishiyori Atsushi, Chen Huey-Ling, Takei Hajime, Nittono Hiroshi, Kurosawa Takao

机构信息

Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Fukuoka, Japan.

出版信息

J Pediatr Gastroenterol Nutr. 2008 Apr;46(4):465-9. doi: 10.1097/MPG.0b013e31815a9911.

DOI:10.1097/MPG.0b013e31815a9911
PMID:18367963
Abstract
摘要

相似文献

1
Neonatal cholestatic liver disease in an Asian patient with a homozygous mutation in the oxysterol 7alpha-hydroxylase gene.一名亚洲患者患有新生儿胆汁淤积性肝病,其氧甾醇7α-羟化酶基因存在纯合突变。
J Pediatr Gastroenterol Nutr. 2008 Apr;46(4):465-9. doi: 10.1097/MPG.0b013e31815a9911.
2
Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease.胆汁酸合成中一种新的先天性代谢缺陷的鉴定:氧化甾醇7α-羟化酶基因突变导致严重的新生儿肝病。
J Clin Invest. 1998 Nov 1;102(9):1690-703. doi: 10.1172/JCI2962.
3
Neonatal cholestasis with increased 3β-monohydroxy-Δ⁵ bile acids in serum and urine: not necessarily primary oxysterol 7α hydroxylase deficiency.血清和尿液中 3β-单羟基-Δ⁵ 胆汁酸增加的新生儿胆汁淤积:不一定是原发性氧化固醇 7α 羟化酶缺乏症。
Clin Chim Acta. 2012 Oct 9;413(19-20):1700-4. doi: 10.1016/j.cca.2012.05.016. Epub 2012 May 28.
4
Regulation of oxysterol 7alpha-hydroxylase (CYP7B1) in the rat.大鼠中氧甾醇7α-羟化酶(CYP7B1)的调节
Metabolism. 2003 May;52(5):636-42. doi: 10.1053/meta.2003.50106.
5
[27-Hydroxylase deficiency (cerebrotendinous xanthomatosis)].
Ryoikibetsu Shokogun Shirizu. 1998(19 Pt 2):285-8.
6
AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseases.AKR1D1 和 CYP7B1 基因突变与胆汁酸代谢先天性错误:可能被低估的疾病。
Pediatr Neonatol. 2020 Feb;61(1):75-83. doi: 10.1016/j.pedneo.2019.06.009. Epub 2019 Jul 4.
7
SRD5B1 gene analysis needed for the accurate diagnosis of primary 3-oxo-Delta4-steroid 5beta-reductase deficiency.原发性3-氧代-Δ4-类固醇5β-还原酶缺乏症的准确诊断需要进行SRD5B1基因分析。
J Gastroenterol Hepatol. 2009 May;24(5):776-85. doi: 10.1111/j.1440-1746.2008.05669.x. Epub 2008 Nov 3.
8
Cholestatic liver disease in adults may be due to an inherited defect in bile acid biosynthesis.成人胆汁淤积性肝病可能是由于胆汁酸生物合成的遗传性缺陷所致。
J Intern Med. 2007 Aug;262(2):254-62. doi: 10.1111/j.1365-2796.2007.01814.x.
9
Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy.因三羟基胆烷酸消旋失败所致的肝病:基因突变及胆汁酸疗法的效果
Gastroenterology. 2003 Jan;124(1):217-32. doi: 10.1053/gast.2003.50017.
10
Successful heterozygous living donor liver transplantation for an oxysterol 7α-hydroxylase deficiency in a Japanese patient.成功为一名日本患者的固醇 7α-羟化酶缺乏症进行杂合子活体供肝移植。
Liver Transpl. 2011 Sep;17(9):1059-65. doi: 10.1002/lt.22331.

引用本文的文献

1
Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis.通过产物替代治疗先天性代谢缺陷:以胆汁酸合成先天性代谢缺陷为例
J Inherit Metab Dis. 2025 Sep;48(5):e70081. doi: 10.1002/jimd.70081.
2
Pleiotropy of Progesterone Receptor Membrane Component 1 in Modulation of Cytochrome P450 Activity.孕激素受体膜组分1在调节细胞色素P450活性中的多效性
J Xenobiot. 2024 May 1;14(2):575-603. doi: 10.3390/jox14020034.
3
Successful treatment of an infant with congenital bile acid synthesis disorder type 3 by ursodeoxycholic acid: a case report.
熊去氧胆酸成功治疗婴儿先天性胆汁酸合成障碍 3 型:1 例报告。
J Med Case Rep. 2022 Apr 7;16(1):139. doi: 10.1186/s13256-022-03365-z.
4
Oxysterol 7-α Hydroxylase (CYP7B1) Attenuates Metabolic-Associated Fatty Liver Disease in Mice at Thermoneutrality.胆甾醇 7-α 羟化酶(CYP7B1)在热中性条件下减轻小鼠的代谢相关脂肪性肝病。
Cells. 2021 Oct 5;10(10):2656. doi: 10.3390/cells10102656.
5
Successful treatment of infantile oxysterol 7α-hydroxylase deficiency with oral chenodeoxycholic acid.经口胆酸成功治疗婴儿型胆汁三烯 7α-羟化酶缺乏症。
BMC Gastroenterol. 2021 Apr 13;21(1):163. doi: 10.1186/s12876-021-01749-x.
6
The Liver under the Spotlight: Bile Acids and Oxysterols as Pivotal Actors Controlling Metabolism.聚焦肝脏:胆汁酸和氧化固醇作为控制代谢的关键因素。
Cells. 2021 Feb 16;10(2):400. doi: 10.3390/cells10020400.
7
Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5.台湾遗传性痉挛性截瘫 5 型患者的临床特征。
Ann Clin Transl Neurol. 2020 Apr;7(4):486-496. doi: 10.1002/acn3.51019. Epub 2020 Mar 22.
8
The acidic pathway of bile acid synthesis: Not just an alternative pathway.胆汁酸合成的酸性途径:不仅仅是一条替代途径。
Liver Res. 2019 May 21;3(2):88-98. doi: 10.1016/j.livres.2019.05.001.
9
Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia.中国隐性遗传性痉挛性截瘫患者的临床特征及基因谱
Transl Neurodegener. 2019 Jun 26;8:19. doi: 10.1186/s40035-019-0157-9. eCollection 2019.
10
Complete Recovery of Oxysterol 7α-Hydroxylase Deficiency by Living Donor Transplantation in a 4-Month-Old Infant: the First Korean Case Report and Literature Review.4 月龄婴儿接受活体供者肝移植治疗完全康复:首例韩国病例报告及文献复习。
J Korean Med Sci. 2018 Nov 22;33(51):e324. doi: 10.3346/jkms.2018.33.e324. eCollection 2018 Dec 17.