|
[1]Bove KE, Heubi JE, Balistreri WF, et al.Bile acid synthetic defects and liver disease:a comprehensive review[J].Pediatr Dev Pathol, 2004, 7 (4) ∶315-334.
|
|
[2]Monte MJ, Marin JJ, Antelo A, et al.Bile acids:chemistry, physiology, and pathophysiology[J].World J Gastroenterol, 2009, 15 (7) ∶804-816.
|
|
[3]Clayton PT, Leonard JV, Lawson AM, et al.Familial giant cell hepatitis associated with synthesis of3beta, 7alpha-dihydroxy and3beta, 7alpha, 12alpha-trihydroxy-5-cholenoic acids[J].J Clin Invest, 1987, 79 (4) ∶1031-1038.
|
|
[4]Cheng JB, Jacquemin E, Gerhardt M, et al.Molecular genetics of3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in16patients with loss of bile acid synthesis and liver disease[J].J Clin Endocrinol Metab, 2003, 88 (4) ∶1833-1841.
|
|
[5]Fischler B, Bodin K, Stjernman H, et al.Cholestatic liver disease in adults may be due to an inherited defect in bile acid biosynthesis[J].J Intern Med, 2007, 262 (2) ∶254-262.
|
|
[6]Jacquemin E, Setchell KD, O'Connell NC, et al.A new cause of progressive intrahepatic cholestasis:3beta-hydroxy-C27-steroid dehydrogenase/isomerase deficiency[J].J Pediatr, 1994, 125 (3) ∶379-384.
|
|
[7]Subramaniam P, Clayton PT, Portmann BC, et al.Variable clinical spectrum of the most common inborn error of bile acid metabolism3beta-hydroxy-Delta5-C27-steroid dehydrogenase deficiency[J].J Pediatr Gastroenterol Nutr, 2010, 50 (1) ∶910.
|
|
[8]Setchell KD, Suchy FJ, Welsh MB, et al.Delta4-3-oxosteroid5beta-reductase deficiency described in identical twins with neonatal hepatitis.A new inborn error in bile acid synthesis[J].J Clin Invest, 1988, 82 (6) ∶2148-2157.
|
|
[9]Lemonde HA, Custard EJ, Bouquet J, et al.Mutations in SRD5B1 (AKR1D1) , the gene encoding delta (4) -3-oxosteroid5beta reductase, in hepatitis and liver failure in infancy[J].Gut, 2003, 52 (10) ∶1494-1499.
|
|
[10]Gonzales E, Cresteil D, Baussan C, et al.SRD5B1 (AKR1D1) gene analysis in delta (4) -3-oxosteroid5beta-reductase deficiency:evidence for primary genetic defect[J].J Hepatol, 2004, 40 (4) ∶716-718.
|
|
[11]Ueki I, Kimura A, Chen HL, et al.SRD5B1gene analysis needed for the accurate diagnosis of primary3-oxo-Delta-steroid5beta-reductase deficiency[J].J Gastroenterol Hepatol, 2009, 24 (5) ∶776-785.
|
|
[12]Setchell KD, Schwarz M, O'Connell NC, et al.Identification of a new inborn error in bile acid synthesis:mutation of the oxysterol7alpha-hydroxylase gene causes severe neonatal liver disease[J].J Clin Invest, 1998, 102 (9) ∶1690-1703.
|
|
[13]Ueki I, Kimura A, Nishiyori A, et al.Neonatal cholestatic liver disease in an Asian patient with a homozygous mutation in the oxysterol7alpha-hydroxylase gene[J].J Pediatr Gastroenterol Nutr, 2008, 46 (4) ∶465-469.
|
|
[14]Ferdinandusse S, Denis S, Clayton PT, et al.Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy[J].Nat Genet, 2000, 24 (2) ∶188-191.
|
|
[15]Setchell KD, Heubi JE, Bove KE, et al.Liver disease caused by failure to racemize trihydroxycholestanoic acid:gene mutation and effect of bile acid therapy[J].Gastroenterology, 2003, 124 (1) ∶217-232.
|
|
[16]Gallus GN, Dotti Mt, Federico A.Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1gene[J].Neurol Sci, 2006, 27 (2) ∶143-149.
|
|
[17]Keren Z, Falik-Zaccai TC.Cerebrotendinous xanthomatosis (CTX) :a treatable lipid storage disease[J].Pediatr Endocrinol Rev, 2009, 7 (1) ∶6-11.
|
|
[18]Bjorkhem I, Hansson M.Cerebrotendinous xanthomatosis:an inborn error in bile acid synthesis with defined mutations but still a challenge[J].Biochem Biophys Res Commun, 2010, 396 (1) ∶46-49.
|
|
[19]Clayton PT, Casteels M, Mieli-Vergani G, et al.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[J].Pediatr Res, 1995, 37 (4) ∶424-431.
|
|
[20]Setchell KD, Heubi J, O'Connell NC, et al.Identification of a unique inborn error in bile acid conjugation involving a deficiency in amidation[J].In:Paumgartner G, Stiehl A, Gerok W.eds.Dordrecht/Boston/London:Kluwer Academic Publishers, 1997∶4347.
|
|
[21]Hofmann AF, Strandvik B.Defective bile acid amidation:predicted features of a new inborn error of metabolism[J].Lancet, 1988, 2 (8606) ∶311-313.
|
|
[22]Hubbard B, Doege H, Punreddy S, et al.Mice deleted for fatty acid transport protein5have defective bile acid conjugation and are protected from obesity[J].Gastroenterology, 2006, 130 (4) ∶1259-1269.
|
|
[23]Carlton VE, Harris BZ, Puffenberger EG, et al.Complex inheritance of familial hypercholanemia with associated mutations in TJP2and BAAT[J].Nat Genet, 2003, 34 (1) ∶91-96.
|
|
[24]Savolainen K, Kotti TJ, Schmitz W, et al.A mouse model for alpha-methylacyl-CoA racemase deficiency:adjustment of bile acid synthesis and intolerance to dietary methyl-branched lipids[J].Hum Mol Genet, 2004, 13 (9) ∶955-965.
|
DownLoad: