3beta-hydroxy-delta5-C27-steroid dehydrogenase/isomerase deficiency in a 23-year-old woman
- PMID: 11192529
- DOI: 10.1046/j.1442-200x.2000.01292.x
3beta-hydroxy-delta5-C27-steroid dehydrogenase/isomerase deficiency in a 23-year-old woman
Similar articles
-
Titration of bile acid supplements in 3beta-hydroxy-Delta 5-C27-steroid dehydrogenase/isomerase deficiency.J Pediatr Gastroenterol Nutr. 2010 Jun;50(6):655-60. doi: 10.1097/MPG.0b013e3181b97bd2. J Pediatr Gastroenterol Nutr. 2010. PMID: 20400917
-
Variable clinical spectrum of the most common inborn error of bile acid metabolism--3beta-hydroxy-Delta 5-C27-steroid dehydrogenase deficiency.J Pediatr Gastroenterol Nutr. 2010 Jan;50(1):61-6. doi: 10.1097/MPG.0b013e3181b47b34. J Pediatr Gastroenterol Nutr. 2010. PMID: 19915491
-
[Clinical features of a Chinese infant with inborn error of bile acid metabolism-3β-hydroxy-Δ(5)-C27-steroid dehydrogenase deficiency and review of the literature].Zhonghua Er Ke Za Zhi. 2013 Aug;51(8):625-9. Zhonghua Er Ke Za Zhi. 2013. PMID: 24225297 Review. Chinese.
-
[3 beta-hydroxy-delta 5-C27-steroid-oxidoreductase/isomerase deficiency].Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):279-81. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9645061 Review. Japanese. No abstract available.
-
Tandem mass spectrometric determination of atypical 3β-hydroxy-Δ5-bile acids in patients with 3β-hydroxy-Δ5-C27-steroid oxidoreductase deficiency: application to diagnosis and monitoring of bile acid therapeutic response.Clin Chem. 2015 Jul;61(7):955-63. doi: 10.1373/clinchem.2015.238238. Epub 2015 Apr 30. Clin Chem. 2015. PMID: 25931455
Cited by
-
Homozygosity mapping identifies a bile acid biosynthetic defect in an adult with cirrhosis of unknown etiology.Hepatology. 2012 Apr;55(4):1139-45. doi: 10.1002/hep.24781. Epub 2012 Feb 8. Hepatology. 2012. PMID: 22095780 Free PMC article.
-
Atypical clinical presentation and successful treatment with oral cholic acid of a child with defective bile acid synthesis due to a novel mutation in the HSD3B7 gene.Pediatr Rep. 2017 Oct 10;9(3):7266. doi: 10.4081/pr.2017.7266. eCollection 2017 Oct 6. Pediatr Rep. 2017. PMID: 29081931 Free PMC article.
-
Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis.J Inherit Metab Dis. 2025 Sep;48(5):e70081. doi: 10.1002/jimd.70081. J Inherit Metab Dis. 2025. PMID: 40847535 Free PMC article. Review.
-
Navigating cholestasis: identifying inborn errors of bile acid metabolism for precision diagnosis.Front Pediatr. 2024 Apr 5;12:1385970. doi: 10.3389/fped.2024.1385970. eCollection 2024. Front Pediatr. 2024. PMID: 38646510 Free PMC article.
-
Genetic spectrum and clinical characteristics of 3β-hydroxy-Δ5-C27-steroid oxidoreductase (HSD3B7) deficiency in China.Orphanet J Rare Dis. 2021 Oct 9;16(1):417. doi: 10.1186/s13023-021-02041-7. Orphanet J Rare Dis. 2021. PMID: 34627351 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical