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Journal Abstract Search

146 related items for PubMed ID: 25154774

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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 01; 900():24-31. PubMed ID: 22695323
    [Abstract] [Full Text] [Related]

  • 5. Human Delta4-3-oxosteroid 5beta-reductase (AKR1D1) deficiency and steroid metabolism.
    Palermo M, Marazzi MG, Hughes BA, Stewart PM, Clayton PT, Shackleton CH.
    Steroids; 2008 Apr 01; 73(4):417-23. PubMed ID: 18243262
    [Abstract] [Full Text] [Related]

  • 6. SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect.
    Gonzales E, Cresteil D, Baussan C, Dabadie A, Gerhardt MF, Jacquemin E.
    J Hepatol; 2004 Apr 01; 40(4):716-8. PubMed ID: 15030995
    [No Abstract] [Full Text] [Related]

  • 7. Diagnosis of the first Japanese patient with 3-oxo-delta4-steroid 5beta-reductase deficiency by use of immunoblot analysis.
    Kimura A, Kondo KH, Okuda KI, Higashi S, Suzuki M, Kurosawa T, Tohma M, Inoue T, Nishiyori A, Yoshino M, Kato H, Setoguchi T.
    Eur J Pediatr; 1998 May 01; 157(5):386-90. PubMed ID: 9625335
    [Abstract] [Full Text] [Related]

  • 8. 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 21; 18(47):7113-7. PubMed ID: 23323017
    [Abstract] [Full Text] [Related]

  • 9. 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 21; 40(3):211-7. PubMed ID: 9695292
    [Abstract] [Full Text] [Related]

  • 10. 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 21; 25(7):859-869. PubMed ID: 30809085
    [Abstract] [Full Text] [Related]

  • 11. Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Δ4-3-Oxosteroid-5β-Reductase Deficiency.
    Zhao J, Qiu YL, Wang L, Li ZD, Xie XB, Lu Y, Setchell KDR, Cheng Y, Xing QH, Wang JS.
    J Mol Diagn; 2023 Apr 21; 25(4):227-233. PubMed ID: 36739965
    [Abstract] [Full Text] [Related]

  • 12. Two neonatal cholestasis patients with mutations in the SRD5B1 (AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatment.
    Seki Y, Mizuochi T, Kimura A, Takahashi T, Ohtake A, Hayashi S, Morimura T, Ohno Y, Hoshina T, Ihara K, Takei H, Nittono H, Kurosawa T, Homma K, Hasegawa T, Matsuishi T.
    J Inherit Metab Dis; 2013 May 21; 36(3):565-73. PubMed ID: 23160874
    [Abstract] [Full Text] [Related]

  • 13. 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 21; 82(6):2148-57. PubMed ID: 3198770
    [Abstract] [Full Text] [Related]

  • 14. Inborn errors of bile acid metabolism in Japan.
    Mizuochi T, Takei H, Nittono H, Kimura A.
    Pediatr Int; 2023 Jan 21; 65(1):e15490. PubMed ID: 36704863
    [Abstract] [Full Text] [Related]

  • 15. 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 21; 38(4):623-8. PubMed ID: 8707100
    [Abstract] [Full Text] [Related]

  • 16. AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseases.
    Chen JY, Wu JF, Kimura A, Nittono H, Liou BY, Lee CS, Chen HS, Chiu YC, Ni YH, Peng SS, Lee WT, Tsai IJ, Chang MH, Chen HL.
    Pediatr Neonatol; 2020 Feb 21; 61(1):75-83. PubMed ID: 31337596
    [Abstract] [Full Text] [Related]

  • 17. 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 21; 25(3):321-6. PubMed ID: 9285385
    [Abstract] [Full Text] [Related]

  • 18. In-Depth Dissection of the P133R Mutation in Steroid 5β-Reductase (AKR1D1): A Molecular Basis of Bile Acid Deficiency.
    Chen M, Jin Y, Penning TM.
    Biochemistry; 2015 Oct 20; 54(41):6343-51. PubMed ID: 26418565
    [Abstract] [Full Text] [Related]

  • 19. 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 20; 124(2):234-8. PubMed ID: 8301429
    [Abstract] [Full Text] [Related]

  • 20. Bile Acid Synthesis Disorders in Japan: Long-Term Outcome and Chenodeoxycholic Acid Treatment.
    Kimura A, Mizuochi T, Takei H, Ohtake A, Mori J, Shinoda K, Hashimoto T, Kasahara M, Togawa T, Murai T, Iida T, Nittono H.
    Dig Dis Sci; 2021 Nov 20; 66(11):3885-3892. PubMed ID: 33385262
    [Abstract] [Full Text] [Related]

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