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Items: 1 to 20 of 96

1.

Attempt to Determine the Prevalence of Two Inborn Errors of Primary Bile Acid Synthesis: Results of a European Survey.

Jahnel J, Zöhrer E, Fischler B, D'Antiga L, Debray D, Dezsofi A, Haas D, Hadzic N, Jacquemin E, Lamireau T, Maggiore G, McKiernan PJ, Calvo PL, Verkade HJ, Hierro L, McLin V, Baumann U, Gonzales E.

J Pediatr Gastroenterol Nutr. 2017 Jun;64(6):864-868. doi: 10.1097/MPG.0000000000001546.

PMID:
28267072
2.

[Infant with 3β-hydroxy-Δ(5)-C27 steroid dehydrogenase deficiency: report of two cases and literatures review].

Li X, Huang Z, Wang H.

Zhonghua Er Ke Za Zhi. 2015 May;53(5):360-5. Review. Chinese.

PMID:
26080666
3.

Micellar solubilisation of cholesterol is essential for absorption in humans.

Woollett LA, Wang Y, Buckley DD, Yao L, Chin S, Granholm N, Jones PJ, Setchell KD, Tso P, Heubi JE.

Gut. 2006 Feb;55(2):197-204.

4.

[Clinical features of a Chinese infant with inborn error of bile acid metabolism-3β-hydroxy-Δ(5)-C27-steroid dehydrogenase deficiency and review of the literature].

Yang TJ, Xie XB, Yao WL, Wang HJ, Yu H, Wang XH.

Zhonghua Er Ke Za Zhi. 2013 Aug;51(8):625-9. Review. Chinese.

PMID:
24225297
5.

Synthesis of atypical bile acids for use as investigative tools for the genetic defect of 3β-hydroxy-Δ(5)-C27-steroid oxidoreductase deficiency.

Gioiello A, Cerra B, Zhang W, Vallerini GP, Costantino G, De Franco F, Passeri D, Pellicciari R, Setchell KD.

J Steroid Biochem Mol Biol. 2014 Oct;144 Pt B:348-60. doi: 10.1016/j.jsbmb.2014.06.008. Epub 2014 Jun 19.

PMID:
24954360
6.

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. doi: 10.1053/j.gastro.2009.07.043. Epub 2009 Jul 19.

PMID:
19622360
7.

Tandem mass spectrometric determination of atypical 3β-hydroxy-Δ5-bile acids in patients with 3β-hydroxy-Δ5-C27-steroid oxidoreductase deficiency: application to diagnosis and monitoring of bile acid therapeutic response.

Zhang W, Jha P, Wolfe B, Gioiello A, Pellicciari R, Wang J, Heubi J, Setchell KD.

Clin Chem. 2015 Jul;61(7):955-63. doi: 10.1373/clinchem.2015.238238. Epub 2015 Apr 30.

8.

Serum Autotaxin Activity Correlates With Pruritus in Pediatric Cholestatic Disorders.

Kremer AE, Gonzales E, Schaap FG, Oude Elferink RP, Jacquemin E, Beuers U.

J Pediatr Gastroenterol Nutr. 2016 Apr;62(4):530-5. doi: 10.1097/MPG.0000000000001044.

PMID:
26628447
9.

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. doi: 10.1111/cen.12596. Epub 2014 Oct 27.

PMID:
25154774
10.

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.

11.

Cholic acid for primary bile acid synthesis defects: a life-saving therapy allowing a favorable outcome in adulthood.

Gonzales E, Matarazzo L, Franchi-Abella S, Dabadie A, Cohen J, Habes D, Hillaire S, Guettier C, Taburet AM, Myara A, Jacquemin E.

Orphanet J Rare Dis. 2018 Oct 29;13(1):190. doi: 10.1186/s13023-018-0920-5.

12.

Congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase/Delta(5)-Delta(4) isomerase deficiency.

Simard J, Moisan AM, Morel Y.

Semin Reprod Med. 2002 Aug;20(3):255-76. Review.

PMID:
12428206
13.

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. doi: 10.1097/MPG.0b013e3181b47b34.

PMID:
19915491
14.

Mechanisms of disease: Inborn errors of bile acid synthesis.

Sundaram SS, Bove KE, Lovell MA, Sokol RJ.

Nat Clin Pract Gastroenterol Hepatol. 2008 Aug;5(8):456-68. doi: 10.1038/ncpgasthep1179. Epub 2008 Jun 24. Review.

15.

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. doi: 10.1111/j.1440-1746.2008.05669.x. Epub 2008 Nov 3.

PMID:
19175828
16.

Titration of bile acid supplements in 3beta-hydroxy-Delta 5-C27-steroid dehydrogenase/isomerase deficiency.

Riello L, D'Antiga L, Guido M, Alaggio R, Giordano G, Zancan L.

J Pediatr Gastroenterol Nutr. 2010 Jun;50(6):655-60. doi: 10.1097/MPG.0b013e3181b97bd2.

PMID:
20400917
17.

ACOX2 deficiency: An inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia.

Monte MJ, Alonso-Peña M, Briz O, Herraez E, Berasain C, Argemi J, Prieto J, Marin JJG.

J Hepatol. 2017 Mar;66(3):581-588. doi: 10.1016/j.jhep.2016.11.005. Epub 2016 Nov 21.

PMID:
27884763
18.

Use of dried urine spots for screening of inborn errors of bile acid synthesis.

Naritaka N, Suzuki M, Takei H, Chen HL, Oh SH, Kaewplang P, Zhang C, Murai T, Kurosawa T, Kimura A, Shimizu T, Nittono H.

Pediatr Int. 2019 Mar 28. doi: 10.1111/ped.13852. [Epub ahead of print]

PMID:
30921489
19.

Neonatal cholestasis with increased 3β-monohydroxy-Δ⁵ bile acids in serum and urine: not necessarily primary oxysterol 7α hydroxylase deficiency.

Kimura A, Nittono H, Mizuochi T, Ueki I, Kurosawa T, Muto A, Takei H.

Clin Chim Acta. 2012 Oct 9;413(19-20):1700-4. doi: 10.1016/j.cca.2012.05.016. Epub 2012 May 28.

PMID:
22652365
20.

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.

PMID:
9695292

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