[1]赵静. 先天性胆汁酸合成障碍1型和2型临床特征及基因突变研究.复旦大学, 2014
[2]Schwarz M, Wright AC, Davis DL, et al. The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis. J Clin Invest, 2000,106(9):1175-1184
[3]Heubi JE, Setchell KD, Bove KE. Inborn errors of bile acid metabolism. Semin Liver Dis, 2007,27(3):282-294
[4] Setchell KD, Heubi JE, Shah S, et al. Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency. Gastroenterology, 2013,144(5):945-955, e14-e15
[5]Clayton PT, Leonard JV, Lawson AM, et al. Familial giant cell hepatitis associated with synthesis of 3 beta, 7 alpha-dihydroxy-and 3 beta,7 alpha, 12 alpha-trihydroxy-5-cholenoic acids. J Clin Invest, 1987,79(4):1031-1038
[6]杨天骄, 谢新宝, 姚玮蕾, 等. 3β-羟基-△5-C27-类固醇脱氢酶缺陷一例分析及文献复习. 中华儿科杂志, 2013,51(8):625-629
[7]李雪松, 黄志华, 王宏. 婴儿3β-羟基-Δ5-C类固醇脱氢酶缺陷二例病例报告及文献复习. 中华儿科杂志, 2015,53(5):360-365
[8]吴怡, 李雪松, 刘艳, 等. 3β-羟基-Δ5-C-类固醇脱氢酶缺陷一家系报告并文献复习. 临床儿科杂志, 2016,34(4):253-257
[9]Jacquemin E, Setchell KD, O'Connell NC, et al. A new cause of progressive intrahepatic cholestasis: 3/3-Hydroxy'C27-steroid dehydrogenase/isomerase deficiency. J Pediatr, 1994, 125(3):379-384
[10]Terazawa S, Kimura A, Inoue T, et al. An infant with 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase/isomerase deficiency presenting with typical neonatal hepatitis syndrome: the first Japanese case. Acta Paediatr Jpn, 1998,40(6):638-640
[11]Akobeng AK, Clayton PT, Miller V, et al. An inborn error of bile acid synthesis (3beta-hydroxy-delta5-C27-steroid dehydrogenase deficiency) presenting as malabsorption leading to rickets. Arch Dis Child, 1999,80(5):463-465
[12]Gonzales E, Matarazzo L, Franchi-Abella S, et al. Cholic acid for primary bile acid synthesis defects: a life-saving therapy allowing a favorable outcome in adulthood. Orphanet J Rare Dis, 2018,13(1):190
[13]Subramaniam P, Clayton PT, Portmann BC, et al. Variable clinical spectrum of the most common inborn error of bile acid metabolism-3beta-hydroxy-Delta 5-C27-steroid dehydrogenase deficiency. J Pediatr Gastr Nutr, 2010,50(1):61-66
[14]Riello L, D'Antiga L, Guido M, et al. Titration of bile acid supplements in 3beta-hydroxy-Delta 5-C27-steroid dehydrogenase/isomerase deficiency. J Pediatr Gastroenterol Nutr, 2010,50(6):655-660
[15]Cheng JB, Jacquemin E, Gerhardt M, et al. Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease. J Clin Endocrinol Metab, 2003, 88(4):1833-1841
[16]Yamato Y, Kimura A, Murai T, et al. 3beta-hydroxy-delta5 -C27-steroid dehydrogenase deficiency: diagnosis and treatment. J Paediatr Child Health, 2001,37(5):516-519
[17]Kimura A, Nittono H, Mizuochi T, et al. Neonatal cholestasis with increased 3β-monohydroxy-Δ5 bile acids in serum and urine: not necessarily primary oxysterol 7α hydroxylase deficiency. Clin Chim Acta, 2012,413(19-20):1700-1704
[18] Mizuochi T, Kimura A, Ueki I, et al. Molecular genetic and bile acid profiles in two Japanese patients with 3beta-hydroxy-DELTA5-C27-steroid dehydrogenase/isomerase deficiency. Pediatr Res, 2010, 68(3):258-263
[19]Gonzales E, Gerhardt MF, Fabre M, et al. Oral cholic acid for hereditary defects of primary bile acid synthesis: a safe and effective long-term therapy. Gastroenterology, 2009,137(4):1310-1320
[20]Shea HC, Head DD, Setchell KD, et al. Analysis of HSD3B7 knockout mice reveals that a 3alpha-hydroxyl stereochemistry is required for bile acid function. Proc Natl Acad Sci U S A, 2007,104(28):11526-11533
[21]Bove KE, Heubi JE, Balistreri WF, et al. Bile acid synthetic defects and liver disease: a comprehensive review. Pediatr Dev Pathol, 2004,7(4):315-334 |
