Gene analysis in delta 4-3-oxosteroid 5 beta-reductase deficiency.

Suppr

超能文献

作者信息

Sumazaki R, Nakamura N, Shoda J, Kurosawa T, Tohma M

出版信息

Lancet. 1997 Feb 1;349(9048):329. doi: 10.1016/s0140-6736(05)62828-0.

DOI:10.1016/s0140-6736(05)62828-0

PMID:9024384

Abstract

摘要

相似文献

Gene analysis in delta 4-3-oxosteroid 5 beta-reductase deficiency.

Lancet. 1997 Feb 1;349(9048):329. doi: 10.1016/s0140-6736(05)62828-0.

SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect.δ(4)-3-氧代类固醇5β-还原酶缺乏症中SRD5B1（AKR1D1）基因分析：原发性基因缺陷的证据

J Hepatol. 2004 Apr;40(4):716-8. doi: 10.1016/j.jhep.2003.12.024.

Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy.编码δ(4)-3-氧代类固醇5β-还原酶的基因SRD5B1（AKR1D1）突变与婴儿期肝炎和肝衰竭

Gut. 2003 Oct;52(10):1494-9. doi: 10.1136/gut.52.10.1494.

Delta 4-3-oxosteroid 5 beta-reductase deficiency causing neonatal liver failure and hemochromatosis.δ4-3-氧代类固醇5β-还原酶缺乏症导致新生儿肝衰竭和血色素沉着症。

J Pediatr. 1994 Feb;124(2):234-8. doi: 10.1016/s0022-3476(94)70310-8.

Distinguishing primary from secondary Δ(4) -3-oxosteroid 5β-reductase (SRD5B1, AKR1D1) deficiency by urinary steroid analysis.通过尿甾体分析鉴别原发性与继发性Δ(4)-3-氧代甾体5β-还原酶（SRD5B1，AKR1D1）缺乏症。

Clin Endocrinol (Oxf). 2015 Mar;82(3):346-51. doi: 10.1111/cen.12596. Epub 2014 Oct 27.

Delta 4-3-oxosteroid 5 beta-reductase deficiency and neonatal hemochromatosis.δ4-3-氧代类固醇5β-还原酶缺乏症与新生儿血色素沉着症。

J Pediatr. 1994 Nov;125(5 Pt 1):845-6.

Delta 4-3-oxosteroid 5 beta-reductase deficiency: failure of ursodeoxycholic acid treatment and response to chenodeoxycholic acid plus cholic acid.δ4-3-氧代甾体5β-还原酶缺乏症：熊去氧胆酸治疗失败及对鹅去氧胆酸加胆酸的反应

Gut. 1996 Apr;38(4):623-8. doi: 10.1136/gut.38.4.623.

Delta 4-3-oxosteroid 5 beta-reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesis.同卵双胞胎患新生儿肝炎时出现的δ4-3-氧代类固醇5β-还原酶缺乏症。胆汁酸合成中的一种新的先天性代谢缺陷。

J Clin Invest. 1988 Dec;82(6):2148-57. doi: 10.1172/JCI113837.

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.

Primary ∆4-3-oxosteroid 5β-reductase deficiency: two cases in China.原发性 ∆4-3-氧代甾体 5β-还原酶缺乏症：中国两例报告。

World J Gastroenterol. 2012 Dec 21;18(47):7113-7. doi: 10.3748/wjg.v18.i47.7113.

引用本文的文献

Structural and Functional Biology of Aldo-Keto Reductase Steroid-Transforming Enzymes.醛酮还原酶甾体转化酶的结构和功能生物学。

Endocr Rev. 2019 Apr 1;40(2):447-475. doi: 10.1210/er.2018-00089.

The aldo-keto reductases (AKRs): Overview.醛酮还原酶（AKRs）概述。

Chem Biol Interact. 2015 Jun 5;234:236-46. doi: 10.1016/j.cbi.2014.09.024. Epub 2014 Oct 7.

Primary ∆4-3-oxosteroid 5β-reductase deficiency: two cases in China.原发性 ∆4-3-氧代甾体 5β-还原酶缺乏症：中国两例报告。

World J Gastroenterol. 2012 Dec 21;18(47):7113-7. doi: 10.3748/wjg.v18.i47.7113.

Two neonatal cholestasis patients with mutations in the SRD5B1 (AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatment.两名新生儿胆汁淤积症患者的 SRD5B1（AKR1D1）基因突变：熊去氧胆酸治疗期间的诊断和胆汁酸谱。

J Inherit Metab Dis. 2013 May;36(3):565-73. doi: 10.1007/s10545-012-9526-6. Epub 2012 Nov 16.

Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency.鉴定疾病相关的 5β-还原酶（AKR1D1）突变可揭示其导致胆汁酸缺乏的潜在可能性。

J Biol Chem. 2010 Aug 6;285(32):24529-37. doi: 10.1074/jbc.M110.127779. Epub 2010 Jun 3.

Mechanisms of disease: Inborn errors of bile acid synthesis.疾病机制：胆汁酸合成的先天性代谢缺陷

Nat Clin Pract Gastroenterol Hepatol. 2008 Aug;5(8):456-68. doi: 10.1038/ncpgasthep1179. Epub 2008 Jun 24.

Human aldo-keto reductases: Function, gene regulation, and single nucleotide polymorphisms.人类醛酮还原酶：功能、基因调控及单核苷酸多态性

Arch Biochem Biophys. 2007 Aug 15;464(2):241-50. doi: 10.1016/j.abb.2007.04.024. Epub 2007 May 11.

Gut. 2003 Oct;52(10):1494-9. doi: 10.1136/gut.52.10.1494.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验