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2019 2
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Molecular overview of progressive familial intrahepatic cholestasis.
Amirneni S, Haep N, Gad MA, Soto-Gutierrez A, Squires JE, Florentino RM. Amirneni S, et al. World J Gastroenterol. 2020 Dec 21;26(47):7470-7484. doi: 10.3748/wjg.v26.i47.7470. World J Gastroenterol. 2020. PMID: 33384548 Free PMC article. Review.
Several mutations and pathways that lead to cholestasis have been described. Progressive familial intrahepatic cholestasis (PFIC) is a group of rare diseases caused by autosomal recessive mutations in the genes that encode proteins expressed mainly in …
Several mutations and pathways that lead to cholestasis have been described. Progressive familial intrahepatic chole …
Maralixibat: First Approval.
Shirley M. Shirley M. Drugs. 2022 Jan;82(1):71-76. doi: 10.1007/s40265-021-01649-0. Drugs. 2022. PMID: 34813049 Free PMC article. Review.
Maralixibat (Livmarli) is an orally-administered, small-molecule ileal bile acid transporter (IBAT) inhibitor being developed by Mirum Pharmaceuticals for the treatment of rare cholestatic liver diseases including Alagille syndrome (ALGS), progressive familial in …
Maralixibat (Livmarli) is an orally-administered, small-molecule ileal bile acid transporter (IBAT) inhibitor being developed by Mirum Pharm …
Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial.
Thompson RJ, Arnell H, Artan R, Baumann U, Calvo PL, Czubkowski P, Dalgic B, D'Antiga L, Durmaz Ö, Fischler B, Gonzalès E, Grammatikopoulos T, Gupte G, Hardikar W, Houwen RHJ, Kamath BM, Karpen SJ, Kjems L, Lacaille F, Lachaux A, Lainka E, Mack CL, Mattsson JP, McKiernan P, Özen H, Rajwal SR, Roquelaure B, Shagrani M, Shteyer E, Soufi N, Sturm E, Tessier ME, Verkade HJ, Horn P. Thompson RJ, et al. Lancet Gastroenterol Hepatol. 2022 Sep;7(9):830-842. doi: 10.1016/S2468-1253(22)00093-0. Epub 2022 Jul 1. Lancet Gastroenterol Hepatol. 2022. PMID: 35780807 Free article. Clinical Trial.
BACKGROUND: Progressive familial intrahepatic cholestasis (PFIC) is a group of inherited paediatric liver diseases resulting from mutations in genes that impact bile secretion. ...
BACKGROUND: Progressive familial intrahepatic cholestasis (PFIC) is a group of inherited paediatric liver diseas …
Treatment of Cholestasis in Infants and Young Children.
Heinz N, Vittorio J. Heinz N, et al. Curr Gastroenterol Rep. 2023 Nov;25(11):344-354. doi: 10.1007/s11894-023-00891-8. Epub 2023 Aug 31. Curr Gastroenterol Rep. 2023. PMID: 37651067 Review.
These were recently approved for treatment of cholestatic pruritus in patients with Alagille syndrome and Progressive Familial Intrahepatic Cholestasis. Current management of cholestasis is aimed at the biochemical consequences of impaired bile flow, i …
These were recently approved for treatment of cholestatic pruritus in patients with Alagille syndrome and Progressive Familial …
Epidemiology and burden of progressive familial intrahepatic cholestasis: a systematic review.
Jones-Hughes T, Campbell J, Crathorne L. Jones-Hughes T, et al. Orphanet J Rare Dis. 2021 Jun 3;16(1):255. doi: 10.1186/s13023-021-01884-4. Orphanet J Rare Dis. 2021. PMID: 34082807 Free PMC article. Review.
BACKGROUND: Progressive familial intrahepatic cholestasis is a rare, heterogeneous group of liver disorders of autosomal recessive inheritance, characterised by an early onset of cholestasis with pruritus and malabsorption, which rapidly progresses, ev …
BACKGROUND: Progressive familial intrahepatic cholestasis is a rare, heterogeneous group of liver disorders of a …
Extrahepatic manifestations of progressive familial intrahepatic cholestasis syndromes: Presentation of a case series and literature review.
Pfister ED, Dröge C, Liebe R, Stalke A, Buhl N, Ballauff A, Cantz T, Bueltmann E, Stindt J, Luedde T, Baumann U, Keitel V. Pfister ED, et al. Liver Int. 2022 May;42(5):1084-1096. doi: 10.1111/liv.15200. Epub 2022 Mar 15. Liver Int. 2022. PMID: 35184362 Review.
BACKGROUND AND AIMS: Progressive familial intrahepatic cholestasis (PFIC) is a collective term for a heterogenous group of rare, inherited cholestasis syndromes. ...
BACKGROUND AND AIMS: Progressive familial intrahepatic cholestasis (PFIC) is a collective term for a heterogenou …
The cholestatic infant: updates on diagnosis and genetics.
Wehrman A, Lee CK. Wehrman A, et al. Curr Opin Pediatr. 2022 Oct 1;34(5):491-495. doi: 10.1097/MOP.0000000000001156. Epub 2022 Aug 3. Curr Opin Pediatr. 2022. PMID: 35942658 Review.
An American experience of genetic testing in large cohort of infants identified a definite or possible genetic diagnosis in 11% of cholestatic infants. In the treatment of prutitus in Alagille syndrome and progressive familial intrahepatic cholestasis …
An American experience of genetic testing in large cohort of infants identified a definite or possible genetic diagnosis in 11% of cholestat …
Outcomes of pediatric liver transplantation for progressive familial intrahepatic cholestasis.
Vasudevan AK, Shanmugam N, Rammohan A, Valamparampil JJ, Rinaldhy K, Menon J, Thambithurai R, Namasivayam S, Kaliamoorthy I, Rela M. Vasudevan AK, et al. Pediatr Transplant. 2023 Dec;27(8):e14600. doi: 10.1111/petr.14600. Epub 2023 Sep 7. Pediatr Transplant. 2023. PMID: 37675889
BACKGROUND: Progressive familial intrahepatic cholestasis (PFIC) is a heterogenous group of inherited hepatocellular disorders and the clinical aspects, role of liver transplantation (LT), and its outcomes remain largely unelucidated. ...
BACKGROUND: Progressive familial intrahepatic cholestasis (PFIC) is a heterogenous group of inherited hepatocell …
The spectrum of Progressive Familial Intrahepatic Cholestasis diseases: Update on pathophysiology and emerging treatments.
Felzen A, Verkade HJ. Felzen A, et al. Eur J Med Genet. 2021 Nov;64(11):104317. doi: 10.1016/j.ejmg.2021.104317. Epub 2021 Aug 31. Eur J Med Genet. 2021. PMID: 34478903 Review.
The Progressive Familial Intrahepatic Cholestasis (PFIC) disease spectrum encompasses a variety of genetic diseases that affect the bile production and the secretion of bile acids. ...
The Progressive Familial Intrahepatic Cholestasis (PFIC) disease spectrum encompasses a variety of genetic disea …
119 results