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Page 1
Triggers of benign recurrent intrahepatic cholestasis and its pathophysiology: a review of literature.
Halawi A, Ibrahim N, Bitar R. Halawi A, et al. Acta Gastroenterol Belg. 2021 Jul-Sep;84(3):477-486. doi: 10.51821/84.3.013. Acta Gastroenterol Belg. 2021. PMID: 34599573 Free article. Review.
Benign recurrent intrahepatic cholestasis (BRIC) is a rare genetic disorder that is characterized by episodes of cholestasis followed by complete resolution. ...
Benign recurrent intrahepatic cholestasis (BRIC) is a rare genetic disorder that is characterized by episodes of …
Cholestasis Due to USP53 Deficiency.
Bull LN, Ellmers R, Foskett P, Strautnieks S, Sambrotta M, Czubkowski P, Jankowska I, Wagner B, Deheragoda M, Thompson RJ. Bull LN, et al. J Pediatr Gastroenterol Nutr. 2021 May 1;72(5):667-673. doi: 10.1097/MPG.0000000000002926. J Pediatr Gastroenterol Nutr. 2021. PMID: 33075013 Free PMC article.
METHODS: Whole exome sequencing (WES) was performed in DNA from patients diagnosed with cholestasis, at different points on the continuum from progressive familial intrahepatic cholestasis to benign recurrent intrahepatic cholestasis, in whom no diseas …
METHODS: Whole exome sequencing (WES) was performed in DNA from patients diagnosed with cholestasis, at different points on the continuum fr …
Current and future therapies for inherited cholestatic liver diseases.
van der Woerd WL, Houwen RH, van de Graaf SF. van der Woerd WL, et al. World J Gastroenterol. 2017 Feb 7;23(5):763-775. doi: 10.3748/wjg.v23.i5.763. World J Gastroenterol. 2017. PMID: 28223721 Free PMC article. Review.
Familial intrahepatic cholestasis (FIC) comprises a group of rare cholestatic liver diseases associated with canalicular transport defects resulting predominantly from mutations in ATP8B1, ABCB11 and ABCB4. Phenotypes range from benign recurrent intrahepatic …
Familial intrahepatic cholestasis (FIC) comprises a group of rare cholestatic liver diseases associated with canalicular transport defects r …
New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications.
Sticova E, Jirsa M, Pawłowska J. Sticova E, et al. Can J Gastroenterol Hepatol. 2018 Jul 26;2018:2313675. doi: 10.1155/2018/2313675. eCollection 2018. Can J Gastroenterol Hepatol. 2018. PMID: 30148122 Free PMC article. Review.
Phenotypic manifestation is highly variable, ranging from progressive familial intrahepatic cholestasis (PFIC)-with onset in early infancy and progression to end-stage liver disease-to a milder intermittent mostly nonprogressive form known as benign recurrent int …
Phenotypic manifestation is highly variable, ranging from progressive familial intrahepatic cholestasis (PFIC)-with onset in early infancy a …
Nasobiliary Drainage for Benign Recurrent Intrahepatic Cholestasis in Patients Refractory to Standard Therapy.
Yakar T, Demir M, Gokturk HS, Unler Kanat AG, Parlakgumus A, Ozer B, Serin E. Yakar T, et al. Clin Invest Med. 2016 Dec 1;39(6):27522. Clin Invest Med. 2016. PMID: 27917812 Clinical Trial.
PURPOSE: Benign recurrent intrahepatic cholestasis (BRIC) is characterized by episodic cholestasis and pruritus without anatomical obstruction. ...
PURPOSE: Benign recurrent intrahepatic cholestasis (BRIC) is characterized by episodic cholestasis and pruritus …
Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing.
Togawa T, Sugiura T, Ito K, Endo T, Aoyama K, Ohashi K, Negishi Y, Kudo T, Ito R, Kikuchi A, Arai-Ichinoi N, Kure S, Saitoh S. Togawa T, et al. J Pediatr. 2016 Apr;171:171-7.e1-4. doi: 10.1016/j.jpeds.2016.01.006. Epub 2016 Feb 5. J Pediatr. 2016. PMID: 26858187
The grouping of the molecular diagnoses in the group with genetic cholestasis was as follows: 12 with Alagille syndrome, 5 with neonatal Dubin-Johnson syndrome, 5 with neonatal intrahepatic cholestasis caused by citrin deficiency, and 6 with progressive familial intrahepatic chol …
The grouping of the molecular diagnoses in the group with genetic cholestasis was as follows: 12 with Alagille syndrome, 5 with neonatal Dub …
Improvement of cholestatic episodes in patients with benign recurrent intrahepatic cholestasis (BRIC) treated with rifampicin. A long-term follow-up.
Helgadottir H, Folvik G, Vesterhus M. Helgadottir H, et al. Scand J Gastroenterol. 2023 May;58(5):512-520. doi: 10.1080/00365521.2022.2143725. Epub 2022 Nov 11. Scand J Gastroenterol. 2023. PMID: 36369734
OBJECTIVE: Patients with benign recurrent intrahepatic cholestasis (BRIC) suffer from recurrent episodes of cholestatic jaundice. ...
OBJECTIVE: Patients with benign recurrent intrahepatic cholestasis (BRIC) suffer from recurrent episodes of chol …
A Rare Case of Benign Recurrent Intrahepatic Cholestasis Initially Diagnosed in Middle-age.
Liu F, Li W, Zhang MG, Song ZM, Wang XD, Wang XH, Du SY. Liu F, et al. Altern Ther Health Med. 2024 Dec;30(12):369-373. Altern Ther Health Med. 2024. PMID: 38607191 Free article.
BACKGROUND: Repeated episodes of jaundice and pruritus are common in a group of autosomal recessive liver diseases known as benign recurrent intrahepatic cholestasis. Benign recurrent intrahepatic cholestasis (BRIC) is divid …
BACKGROUND: Repeated episodes of jaundice and pruritus are common in a group of autosomal recessive liver diseases known as benign …
Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.
Giovannoni I, Callea F, Bellacchio E, Torre G, De Ville De Goyet J, Francalanci P. Giovannoni I, et al. PLoS One. 2015 Dec 17;10(12):e0145021. doi: 10.1371/journal.pone.0145021. eCollection 2015. PLoS One. 2015. PMID: 26678486 Free PMC article.
Different mutations in these genes may cause either a progressive familial intrahepatic cholestasis (PFIC) or a benign recurrent intrahepatic cholestasis (BRIC). For the purposes of the present study we genotyped 27 children with intrahepatic cholestas …
Different mutations in these genes may cause either a progressive familial intrahepatic cholestasis (PFIC) or a benign recurrent …
27 results