394 related articles for article (PubMed ID: 26080666)
1. [Infant with 3β-hydroxy-Δ(5)-C27 steroid dehydrogenase deficiency: report of two cases and literatures review].
Li X; Huang Z; Wang H
Zhonghua Er Ke Za Zhi; 2015 May; 53(5):360-5. PubMed ID: 26080666
[TBL] [Abstract][Full Text] [Related]
2. [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].
Yang TJ; Xie XB; Yao WL; Wang HJ; Yu H; Wang XH
Zhonghua Er Ke Za Zhi; 2013 Aug; 51(8):625-9. PubMed ID: 24225297
[TBL] [Abstract][Full Text] [Related]
3. Molecular genetic and bile acid profiles in two Japanese patients with 3beta-hydroxy-DELTA5-C27-steroid dehydrogenase/isomerase deficiency.
Mizuochi T; Kimura A; Ueki I; Takahashi T; Hashimoto T; Takao A; Seki Y; Takei H; Nittono H; Kurosawa T; Matsuishi T
Pediatr Res; 2010 Sep; 68(3):258-63. PubMed ID: 20531254
[TBL] [Abstract][Full Text] [Related]
4. 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.
Zhang W; Jha P; Wolfe B; Gioiello A; Pellicciari R; Wang J; Heubi J; Setchell KD
Clin Chem; 2015 Jul; 61(7):955-63. PubMed ID: 25931455
[TBL] [Abstract][Full Text] [Related]
5. Variable clinical spectrum of the most common inborn error of bile acid metabolism--3beta-hydroxy-Delta 5-C27-steroid dehydrogenase deficiency.
Subramaniam P; Clayton PT; Portmann BC; Mieli-Vergani G; Hadzić N
J Pediatr Gastroenterol Nutr; 2010 Jan; 50(1):61-6. PubMed ID: 19915491
[TBL] [Abstract][Full Text] [Related]
6. Bile Acid Synthesis Disorders in Arabs: A 10-year Screening Study.
Al-Hussaini AA; Setchell KDR; AlSaleem B; Heubi JE; Lone K; Davit-Spraul A; Jacquemin E
J Pediatr Gastroenterol Nutr; 2017 Dec; 65(6):613-620. PubMed ID: 28902093
[TBL] [Abstract][Full Text] [Related]
7. A new cause of progressive intrahepatic cholestasis: 3 beta-hydroxy-C27-steroid dehydrogenase/isomerase deficiency.
Jacquemin E; Setchell KD; O'Connell NC; Estrada A; Maggiore G; Schmitz J; Hadchouel M; Bernard O
J Pediatr; 1994 Sep; 125(3):379-84. PubMed ID: 7915305
[TBL] [Abstract][Full Text] [Related]
8. Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease.
Cheng JB; Jacquemin E; Gerhardt M; Nazer H; Cresteil D; Heubi JE; Setchell KD; Russell DW
J Clin Endocrinol Metab; 2003 Apr; 88(4):1833-41. PubMed ID: 12679481
[TBL] [Abstract][Full Text] [Related]
9. 3beta-hydroxy-delta5 -C27-steroid dehydrogenase deficiency: diagnosis and treatment.
Yamato Y; Kimura A; Murai T; Yoshimura T; Kurosawa T; Terazawa S; Takao A; Maeda K; Nakashima E; Yamashita Y; Kato H
J Paediatr Child Health; 2001 Oct; 37(5):516-9. PubMed ID: 11885722
[TBL] [Abstract][Full Text] [Related]
10. [Relationship between phenotype and genotype of ABCB11 deficiency in siblings and literature review].
Peng XR; Lu Y; Zhang MH; Li LT; Xie XB; Gong JY; Wang JS
Zhonghua Er Ke Za Zhi; 2018 Jun; 56(6):440-444. PubMed ID: 29886607
[No Abstract] [Full Text] [Related]
11. Genetic spectrum and clinical characteristics of 3β-hydroxy-Δ
Zhao J; Setchell KDR; Gong Y; Sun Y; Zhang P; Heubi JE; Fang L; Lu Y; Xie X; Gong J; Wang JS
Orphanet J Rare Dis; 2021 Oct; 16(1):417. PubMed ID: 34627351
[TBL] [Abstract][Full Text] [Related]
12. Neonatal cholestasis with increased 3β-monohydroxy-Δ⁵ bile acids in serum and urine: not necessarily primary oxysterol 7α hydroxylase deficiency.
Kimura A; Nittono H; Mizuochi T; Ueki I; Kurosawa T; Muto A; Takei H
Clin Chim Acta; 2012 Oct; 413(19-20):1700-4. PubMed ID: 22652365
[TBL] [Abstract][Full Text] [Related]
13. Inborn errors of bile acid metabolism in Japan.
Mizuochi T; Takei H; Nittono H; Kimura A
Pediatr Int; 2023 Jan; 65(1):e15490. PubMed ID: 36704863
[TBL] [Abstract][Full Text] [Related]
14. Synthesis of atypical bile acids for use as investigative tools for the genetic defect of 3β-hydroxy-Δ(5)-C27-steroid oxidoreductase deficiency.
Gioiello A; Cerra B; Zhang W; Vallerini GP; Costantino G; De Franco F; Passeri D; Pellicciari R; Setchell KD
J Steroid Biochem Mol Biol; 2014 Oct; 144 Pt B():348-60. PubMed ID: 24954360
[TBL] [Abstract][Full Text] [Related]
15. An inborn error of bile acid synthesis (3beta-hydroxy-delta5-C27-steroid dehydrogenase deficiency) presenting as malabsorption leading to rickets.
Akobeng AK; Clayton PT; Miller V; Super M; Thomas AG
Arch Dis Child; 1999 May; 80(5):463-5. PubMed ID: 10208955
[TBL] [Abstract][Full Text] [Related]
16. The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis.
Schwarz M; Wright AC; Davis DL; Nazer H; Björkhem I; Russell DW
J Clin Invest; 2000 Nov; 106(9):1175-84. PubMed ID: 11067870
[TBL] [Abstract][Full Text] [Related]
17. 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency; effect of chenodeoxycholic acid therapy on liver histology.
Horslen SP; Lawson AM; Malone M; Clayton PT
J Inherit Metab Dis; 1992; 15(1):38-46. PubMed ID: 1583874
[TBL] [Abstract][Full Text] [Related]
18. Cholestatic liver disease in adults may be due to an inherited defect in bile acid biosynthesis.
Fischler B; Bodin K; Stjernman H; Olin M; Hansson M; Sjövall J; Björkhem I
J Intern Med; 2007 Aug; 262(2):254-62. PubMed ID: 17645593
[TBL] [Abstract][Full Text] [Related]
19. Bile acids and bile alcohols in a child with hepatic 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency: effects of chenodeoxycholic acid treatment.
Ichimiya H; Egestad B; Nazer H; Baginski ES; Clayton PT; Sjövall J
J Lipid Res; 1991 May; 32(5):829-41. PubMed ID: 2072042
[TBL] [Abstract][Full Text] [Related]
20. Human liver class I alcohol dehydrogenase gammagamma isozyme: the sole cytosolic 3beta-hydroxysteroid dehydrogenase of iso bile acids.
Marschall HU; Oppermann UC; Svensson S; Nordling E; Persson B; Höög JO; Jörnvall H
Hepatology; 2000 Apr; 31(4):990-6. PubMed ID: 10733557
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
