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3β-hydroxy-Δ⁵-C₂₇-steroid dehydrogenase/isomerase deficiency in a patient who underwent oral bile acid therapy for 10 years and delivered two healthy infants.

作者信息

Nittono Hiroshi, Takei Hajime, Unno Atsushi, Shimizu Toshiaki, Kobayashi Masakazu, Koike Michio, Murai Tsuyoshi, Kurosawa Takao, Thoma Masahiko

机构信息

Junshin Clinic Bile Acid Institute, Tokyo, Japan.

出版信息

Pediatr Int. 2010 Aug;52(4):e192-5. doi: 10.1111/j.1442-200X.2010.03131.x.

DOI:10.1111/j.1442-200X.2010.03131.x
PMID:20958862
Abstract
摘要

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3β-hydroxy-Δ⁵-C₂₇-steroid dehydrogenase/isomerase deficiency in a patient who underwent oral bile acid therapy for 10 years and delivered two healthy infants.一名接受口服胆汁酸治疗10年并育有两名健康婴儿的患者存在3β-羟基-Δ⁵-C₂₇-类固醇脱氢酶/异构酶缺乏症。
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3β-Hydroxy-Δ5 -C27 -steroid dehydrogenase/isomerase deficiency in a patient who underwent oral bile acid therapy for 10 years and delivered two healthy infants: reply.一名接受口服胆汁酸治疗10年并育有两名健康婴儿的患者出现3β-羟基-Δ5 -C27 -类固醇脱氢酶/异构酶缺乏症：回复
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Variable clinical spectrum of the most common inborn error of bile acid metabolism--3beta-hydroxy-Delta 5-C27-steroid dehydrogenase deficiency.最常见的先天性胆汁酸代谢错误——3β-羟基-Delta 5-C27-类固醇脱氢酶缺乏症的可变临床谱。
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Treatment of chronic liver disease caused by 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency with chenodeoxycholic acid.用鹅去氧胆酸治疗由3β-羟基-δ5-C27-类固醇脱氢酶缺乏引起的慢性肝病。
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引用本文的文献

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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.
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Targeted Plasma Bile Acid Metabolomic Analysis in Metabolic Dysfunction-Associated Steatohepatitis and Alcoholic Hepatitis.代谢功能障碍相关脂肪性肝炎和酒精性肝炎的靶向血浆胆汁酸代谢组学分析
Biomedicines. 2024 Dec 31;13(1):78. doi: 10.3390/biomedicines13010078.
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Homozygosity mapping identifies a bile acid biosynthetic defect in an adult with cirrhosis of unknown etiology.
单体型分析鉴定出一位病因不明肝硬化成年患者的胆汁酸生物合成缺陷。
Hepatology. 2012 Apr;55(4):1139-45. doi: 10.1002/hep.24781. Epub 2012 Feb 8.