151 related articles for article (PubMed ID: 8301429)
1. Delta 4-3-oxosteroid 5 beta-reductase deficiency causing neonatal liver failure and hemochromatosis.
Shneider BL; Setchell KD; Whitington PF; Neilson KA; Suchy FJ
J Pediatr; 1994 Feb; 124(2):234-8. PubMed ID: 8301429
[TBL] [Abstract][Full Text] [Related]
2. Abnormal bile acid metabolism and neonatal hemochromatosis: a subset with poor prognosis.
Siafakas CG; Jonas MM; Perez-Atayde AR
J Pediatr Gastroenterol Nutr; 1997 Sep; 25(3):321-6. PubMed ID: 9285385
[TBL] [Abstract][Full Text] [Related]
3. Delta 4-3-oxosteroid 5 beta-reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesis.
Setchell KD; Suchy FJ; Welsh MB; Zimmer-Nechemias L; Heubi J; Balistreri WF
J Clin Invest; 1988 Dec; 82(6):2148-57. PubMed ID: 3198770
[TBL] [Abstract][Full Text] [Related]
4. Distinguishing primary from secondary Δ(4) -3-oxosteroid 5β-reductase (SRD5B1, AKR1D1) deficiency by urinary steroid analysis.
Yanagi T; Mizuochi T; Homma K; Ueki I; Seki Y; Hasegawa T; Takei H; Nittono H; Kurosawa T; Matsuishi T; Kimura A
Clin Endocrinol (Oxf); 2015 Mar; 82(3):346-51. PubMed ID: 25154774
[TBL] [Abstract][Full Text] [Related]
5. Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy.
Lemonde HA; Custard EJ; Bouquet J; Duran M; Overmars H; Scambler PJ; Clayton PT
Gut; 2003 Oct; 52(10):1494-9. PubMed ID: 12970144
[TBL] [Abstract][Full Text] [Related]
6. Tyrosinemia type I-like disease: a possible manifestation of 3-oxo-delta 4-steroid 5 beta-reductase deficiency.
Kimura A; Endo F; Kagimoto S; Inoue T; Suzuki M; Kurosawa T; Tohma M; Fujisawa T; Kato H
Acta Paediatr Jpn; 1998 Jun; 40(3):211-7. PubMed ID: 9695292
[TBL] [Abstract][Full Text] [Related]
7. Delta 4-3-oxosteroid 5 beta-reductase deficiency: failure of ursodeoxycholic acid treatment and response to chenodeoxycholic acid plus cholic acid.
Clayton PT; Mills KA; Johnson AW; Barabino A; Marazzi MG
Gut; 1996 Apr; 38(4):623-8. PubMed ID: 8707100
[TBL] [Abstract][Full Text] [Related]
8. Delta 4-3-oxosteroid 5 beta-reductase deficiency and neonatal hemochromatosis.
Clayton PT
J Pediatr; 1994 Nov; 125(5 Pt 1):845-6. PubMed ID: 7965448
[No Abstract] [Full Text] [Related]
9. Ketonic bile acids in urine of infants during the neonatal period.
Wahlén E; Egestad B; Strandvik B; Sjoóvall J
J Lipid Res; 1989 Dec; 30(12):1847-57. PubMed ID: 2621412
[TBL] [Abstract][Full Text] [Related]
10. SRD5B1 gene analysis needed for the accurate diagnosis of primary 3-oxo-Delta4-steroid 5beta-reductase deficiency.
Ueki I; Kimura A; Chen HL; Yorifuji T; Mori J; Itoh S; Maruyama K; Ishige T; Takei H; Nittono H; Kurosawa T; Kage M; Matsuishi T
J Gastroenterol Hepatol; 2009 May; 24(5):776-85. PubMed ID: 19175828
[TBL] [Abstract][Full Text] [Related]
11. Oral cholic acid for hereditary defects of primary bile acid synthesis: a safe and effective long-term therapy.
Gonzales E; Gerhardt MF; Fabre M; Setchell KD; Davit-Spraul A; Vincent I; Heubi JE; Bernard O; Jacquemin E
Gastroenterology; 2009 Oct; 137(4):1310-1320.e1-3. PubMed ID: 19622360
[TBL] [Abstract][Full Text] [Related]
12. Gene analysis in delta 4-3-oxosteroid 5 beta-reductase deficiency.
Sumazaki R; Nakamura N; Shoda J; Kurosawa T; Tohma M
Lancet; 1997 Feb; 349(9048):329. PubMed ID: 9024384
[No Abstract] [Full Text] [Related]
13. Primary ∆4-3-oxosteroid 5β-reductase deficiency: two cases in China.
Zhao J; Fang LJ; Setchell KD; Chen R; Li LT; Wang JS
World J Gastroenterol; 2012 Dec; 18(47):7113-7. PubMed ID: 23323017
[TBL] [Abstract][Full Text] [Related]
14. Detection of Δ4-3-oxo-steroid 5β-reductase deficiency by LC-ESI-MS/MS measurement of urinary bile acids.
Muto A; Takei H; Unno A; Murai T; Kurosawa T; Ogawa S; Iida T; Ikegawa S; Mori J; Ohtake A; Hoshina T; Mizuochi T; Kimura A; Hofmann AF; Hagey LR; Nittono H
J Chromatogr B Analyt Technol Biomed Life Sci; 2012 Jul; 900():24-31. PubMed ID: 22695323
[TBL] [Abstract][Full Text] [Related]
15. Hepatic failure with neonatal tissue siderosis of hemochromatotic type in an infant presenting with meconium ileus. Case report and differential diagnosis of the perinatal iron storage disorders.
Sergi C; Himbert U; Weinhardt F; Heilmann W; Meyer P; Beedgen B; Zilow E; Hofmann WJ; Linderkamp O; Otto HF
Pathol Res Pract; 2001; 197(10):699-709; discussion 711-3. PubMed ID: 11700892
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Δ4-3-oxosteroid-5β-reductase deficiency: Responses to oral bile acid therapy and long-term outcomes.
Zhang MH; Setchell KD; Zhao J; Gong JY; Lu Y; Wang JS
World J Gastroenterol; 2019 Feb; 25(7):859-869. PubMed ID: 30809085
[TBL] [Abstract][Full Text] [Related]
18. Developmental pattern of 3-oxo-delta 4 bile acids in neonatal bile acid metabolism.
Inoue T; Kimura A; Aoki K; Tohma M; Kato H
Arch Dis Child Fetal Neonatal Ed; 1997 Jul; 77(1):F52-6. PubMed ID: 9279184
[TBL] [Abstract][Full Text] [Related]
19. Resolution of liver biopsy alterations in three siblings with bile acid treatment of an inborn error of bile acid metabolism (delta 4-3-oxosteroid 5 beta-reductase deficiency).
Daugherty CC; Setchell KD; Heubi JE; Balistreri WF
Hepatology; 1993 Nov; 18(5):1096-101. PubMed ID: 8225213
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]