Cholic acid for primary bile acid synthesis defects: a life-saving therapy allowing a favorable outcome in adulthood-Reference-Cited by-同舟云学术

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

Published:2018-10-29 Issue:1 Volume:13 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Gonzales Emmanuel,Matarazzo Lorenza,Franchi-Abella Stéphanie,Dabadie Alain,Cohen Joseph,Habes Dalila,Hillaire Sophie,Guettier Catherine,Taburet Anne-Marie,Myara Anne,Jacquemin Emmanuel^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-018-0920-5.pdf

Reference30 articles.

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2. Setchell KD, Suchy FJ, Welsh MB, Zimmer-Nechemias L, Heubi J, Balistreri WF. Delta 4-3-oxosteroid 5 beta-reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesis. J Clin Invest. 1988;82:2148–57.

3. Schwarz M, Wright AC, Davis DL, Nazer H, Björkhem I, Russell DW. The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis. J Clin Invest. 2000;106:1175–84.

4. Cheng JB, Jacquemin E, Gerhardt M, Nazer H, Cresteil D, Heubi JE, 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;88:1833–41.

5. Lemonde HA, Custard EJ, Bouquet J, Duran M, Overmars H, Scambler PJ, et al. Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy. Gut. 2003;52:1494–9.

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