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Bile acid synthesis defect with cholestasis and malabsorption

MedGen UID:
1842240
Concept ID:
C5681851
Disease or Syndrome
Orphanet: ORPHA163631

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Chen HL, Wu SH, Hsu SH, Liou BY, Chen HL, Chang MH
J Biomed Sci 2018 Oct 26;25(1):75. doi: 10.1186/s12929-018-0475-8. PMID: 30367658Free PMC Article
Heubi JE, Setchell KD, Jha P, Buckley D, Zhang W, Rosenthal P, Potter C, Horslen S, Suskind D
Hepatology 2015 Jan;61(1):268-74. Epub 2014 Dec 23 doi: 10.1002/hep.27401. PMID: 25163551Free PMC Article
Sherlock S
Br Med J 1968 Aug 31;3(5617):515-21. doi: 10.1136/bmj.3.5617.515. PMID: 4971054Free PMC Article

Recent clinical studies

Etiology

Girard M, Lacaille F, Verkarre V, Mategot R, Feldmann G, Grodet A, Sauvat F, Irtan S, Davit-Spraul A, Jacquemin E, Ruemmele F, Rainteau D, Goulet O, Colomb V, Chardot C, Henrion-Caude A, Debray D
Hepatology 2014 Jul;60(1):301-10. Epub 2014 May 27 doi: 10.1002/hep.26974. PMID: 24375397
Babin F, Lemonnier F, Goguelin A, Alagille D, Lemonnier A
Ann Nutr Metab 1988;32(4):220-30. doi: 10.1159/000177445. PMID: 3195990
Aly A, Carlson K, Johansson C, Kirstein P, Rössner S, Wallentin L
Eur J Clin Invest 1984 Apr;14(2):155-62. doi: 10.1111/j.1365-2362.1984.tb02106.x. PMID: 6428906
Sokol RJ, Heubi JE, Iannaccone S, Bove KE, Balistreri WF
Gastroenterology 1983 Nov;85(5):1172-82. PMID: 6618108

Diagnosis

Chen HL, Wu SH, Hsu SH, Liou BY, Chen HL, Chang MH
J Biomed Sci 2018 Oct 26;25(1):75. doi: 10.1186/s12929-018-0475-8. PMID: 30367658Free PMC Article
Heubi JE, Setchell KD, Bove KE
Semin Liver Dis 2007 Aug;27(3):282-94. doi: 10.1055/s-2007-985073. PMID: 17682975
Tomer G, Shneider BL
Gastroenterol Clin North Am 2003 Sep;32(3):839-55, vi. doi: 10.1016/s0889-8553(03)00044-x. PMID: 14562577
Sherlock S
Br Med J 1968 Aug 31;3(5617):515-21. doi: 10.1136/bmj.3.5617.515. PMID: 4971054Free PMC Article

Therapy

Heubi JE, Setchell KD, Jha P, Buckley D, Zhang W, Rosenthal P, Potter C, Horslen S, Suskind D
Hepatology 2015 Jan;61(1):268-74. Epub 2014 Dec 23 doi: 10.1002/hep.27401. PMID: 25163551Free PMC Article
Hofmann AF
Hepatology 2009 May;49(5):1403-18. doi: 10.1002/hep.22789. PMID: 19296471
Tomer G, Shneider BL
Gastroenterol Clin North Am 2003 Sep;32(3):839-55, vi. doi: 10.1016/s0889-8553(03)00044-x. PMID: 14562577
Hofmann AF
Arch Intern Med 1999 Dec 13-27;159(22):2647-58. doi: 10.1001/archinte.159.22.2647. PMID: 10597755
Hofmann AF
J Pediatr Gastroenterol Nutr 1995 May;20(4):376-90. doi: 10.1097/00005176-199505000-00002. PMID: 7636679

Prognosis

Heubi JE, Setchell KD, Jha P, Buckley D, Zhang W, Rosenthal P, Potter C, Horslen S, Suskind D
Hepatology 2015 Jan;61(1):268-74. Epub 2014 Dec 23 doi: 10.1002/hep.27401. PMID: 25163551Free PMC Article
Heubi JE, Setchell KD, Bove KE
Semin Liver Dis 2007 Aug;27(3):282-94. doi: 10.1055/s-2007-985073. PMID: 17682975
Tomer G, Shneider BL
Gastroenterol Clin North Am 2003 Sep;32(3):839-55, vi. doi: 10.1016/s0889-8553(03)00044-x. PMID: 14562577

Clinical prediction guides

Heubi JE, Setchell KD, Jha P, Buckley D, Zhang W, Rosenthal P, Potter C, Horslen S, Suskind D
Hepatology 2015 Jan;61(1):268-74. Epub 2014 Dec 23 doi: 10.1002/hep.27401. PMID: 25163551Free PMC Article
Babin F, Lemonnier F, Goguelin A, Alagille D, Lemonnier A
Ann Nutr Metab 1988;32(4):220-30. doi: 10.1159/000177445. PMID: 3195990

Supplemental Content

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    Clinical resources

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