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408 related items for PubMed ID: 12512044

  • 1. Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy.
    Setchell KD, Heubi JE, Bove KE, O'Connell NC, Brewsaugh T, Steinberg SJ, Moser A, Squires RH.
    Gastroenterology; 2003 Jan; 124(1):217-32. PubMed ID: 12512044
    [Abstract] [Full Text] [Related]

  • 2. Bile acid synthetic defects and liver disease: a comprehensive review.
    Bove KE, Heubi JE, Balistreri WF, Setchell KD.
    Pediatr Dev Pathol; 2004 Jan; 7(4):315-34. PubMed ID: 15383928
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  • 3. The metabolism of 3alpha, 7alpha, 12alpha-trihydorxy-5beta-cholestan-26-oic acid in two siblings with cholestasis due to intrahepatic bile duct anomalies. An apparent inborn error of cholic acid synthesis.
    Hanson RF, Isenberg JN, Williams GC, Hachey D, Szczepanik P, Klein PD, Sharp HL.
    J Clin Invest; 1975 Sep; 56(3):577-87. PubMed ID: 1159074
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Bile acid profiles in peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency.
    Clayton PT, Patel E, Lawson AM, Carruthers RA, Collins J.
    J Clin Invest; 1990 Apr; 85(4):1267-73. PubMed ID: 2318981
    [Abstract] [Full Text] [Related]

  • 6. Defective peroxisomal cleavage of the C27-steroid side chain in the cerebro-hepato-renal syndrome of Zellweger.
    Kase BF, Björkhem I, Hågå P, Pedersen JI.
    J Clin Invest; 1985 Feb; 75(2):427-35. PubMed ID: 3973012
    [Abstract] [Full Text] [Related]

  • 7. Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency.
    Ferdinandusse S, Overmars H, Denis S, Waterham HR, Wanders RJ, Vreken P.
    J Lipid Res; 2001 Jan; 42(1):137-41. PubMed ID: 11160375
    [Abstract] [Full Text] [Related]

  • 8. Familial giant cell hepatitis with low bile acid concentrations and increased urinary excretion of specific bile alcohols: a new inborn error of bile acid synthesis?
    Clayton PT, Casteels M, Mieli-Vergani G, Lawson AM.
    Pediatr Res; 1995 Apr; 37(4 Pt 1):424-31. PubMed ID: 7596681
    [Abstract] [Full Text] [Related]

  • 9. In vivo and vitro studies on formation of bile acids in patients with Zellweger syndrome. Evidence that peroxisomes are of importance in the normal biosynthesis of both cholic and chenodeoxycholic acid.
    Kase BF, Pedersen JI, Strandvik B, Björkhem I.
    J Clin Invest; 1985 Dec; 76(6):2393-402. PubMed ID: 4077985
    [Abstract] [Full Text] [Related]

  • 10. Urinary bile acid profile in children with inborn errors of bile acid metabolism and chronic cholestasis; screening technique using electrospray tandem mass-spectrometry (ES/MS/MS).
    Yousef IM, Perwaiz S, Lamireau T, Tuchweber B.
    Med Sci Monit; 2003 Mar; 9(3):MT21-31. PubMed ID: 12640349
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  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. [Inborn errors of bile acid metabolism].
    Stellaard F, Wolthers BG.
    Tijdschr Kindergeneeskd; 1993 Aug; 61(4):125-34. PubMed ID: 8122223
    [Abstract] [Full Text] [Related]

  • 15. Defects in bile acid biosynthesis--diagnosis and treatment.
    Setchell KD, Heubi JE.
    J Pediatr Gastroenterol Nutr; 2006 Jul; 43 Suppl 1():S17-22. PubMed ID: 16819396
    [Abstract] [Full Text] [Related]

  • 16. Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease.
    Setchell KD, Schwarz M, O'Connell NC, Lund EG, Davis DL, Lathe R, Thompson HR, Weslie Tyson R, Sokol RJ, Russell DW.
    J Clin Invest; 1998 Nov 01; 102(9):1690-703. PubMed ID: 9802883
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  • 19. Measurement of bile acid CoA esters by high-performance liquid chromatography-electrospray ionisation tandem mass spectrometry (HPLC-ESI-MS/MS).
    Gan-Schreier H, Okun JG, Kohlmueller D, Langhans CD, Peters V, Ten Brink HJ, Verhoeven NM, Jakobs C, Voelkl A, Hoffmann GF.
    J Mass Spectrom; 2005 Jul 01; 40(7):882-9. PubMed ID: 15892178
    [Abstract] [Full Text] [Related]

  • 20. Bile acid synthesis in cultured human hepatocytes: support for an alternative biosynthetic pathway to cholic acid.
    Axelson M, Ellis E, Mörk B, Garmark K, Abrahamsson A, Björkhem I, Ericzon BG, Einarsson C.
    Hepatology; 2000 Jun 01; 31(6):1305-12. PubMed ID: 10827156
    [Abstract] [Full Text] [Related]

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