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Clinical symptoms, biochemistry, and liver histology during the native liver period of progressive familial intrahepatic cholestasis type 2.
Kondou H, Nakano S, Mizuno T, Bessho K, Hasegawa Y, Nakazawa A, Tanikawa K, Azuma Y, Okamoto T, Inui A, Imagawa K, Kasahara M, Zen Y, Suzuki M, Hayashi H. Kondou H, et al. Orphanet J Rare Dis. 2024 Feb 10;19(1):57. doi: 10.1186/s13023-024-03080-6. Orphanet J Rare Dis. 2024. PMID: 38341604 Free PMC article.
BACKGROUND: Progressive familial intrahepatic cholestasis type 2 (PFIC2) is an ultra-rare disease caused by mutations in the ABCB11 gene. ...
BACKGROUND: Progressive familial intrahepatic cholestasis type 2 (PFIC2) is an ultra-rare disease …
Retargeting of bile salt export pump and favorable outcome in children with progressive familial intrahepatic cholestasis type 2.
Varma S, Revencu N, Stephenne X, Scheers I, Smets F, Beleza-Meireles A, Reding R, Roskams T, Sokal EM. Varma S, et al. Hepatology. 2015 Jul;62(1):198-206. doi: 10.1002/hep.27834. Epub 2015 May 12. Hepatology. 2015. PMID: 25847299
We investigated predictors of clinical evolution in progressive familial intrahepatic cholestasis type 2 patients and how they relate to bile salt export pump (BSEP) expression and its (re)targeting. Our retrospective study included 22 ch …
We investigated predictors of clinical evolution in progressive familial intrahepatic cholestasis type …
Repurposed drugs in metabolic disorders.
Finsterer J, Frank M. Finsterer J, et al. Curr Top Med Chem. 2013;13(18):2386-94. doi: 10.2174/15680266113136660166. Curr Top Med Chem. 2013. PMID: 24059459 Review.
An example of group C is phenylbutyrate, which was originally approved for urea-cycle disorders and meanwhile gained approval for progressive familial intrahepatic cholestasis type 2 due to mutations in the ABCB11 gene. ...
An example of group C is phenylbutyrate, which was originally approved for urea-cycle disorders and meanwhile gained approval for progres …
Targeted pharmacotherapy in progressive familial intrahepatic cholestasis type 2: Evidence for improvement of cholestasis with 4-phenylbutyrate.
Gonzales E, Grosse B, Schuller B, Davit-Spraul A, Conti F, Guettier C, Cassio D, Jacquemin E. Gonzales E, et al. Hepatology. 2015 Aug;62(2):558-66. doi: 10.1002/hep.27767. Epub 2015 Apr 8. Hepatology. 2015. PMID: 25716872
Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a result of mutations in ABCB11 encoding bile salt export pump (BSEP), the canalicular bile salt export pump of hepatocyte. ...
Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a result of mutations in ABCB11 en …
Successful pregnancy after ileal exclusion in progressive familial intrahepatic cholestasis type 2.
Czubkowski P, Jankowska I, Pawlowska J. Czubkowski P, et al. Ann Hepatol. 2015 Jul-Aug;14(4):550-2. Ann Hepatol. 2015. PMID: 26019043 Free article.
Progressive familial intrahepatic cholestasis type 2 (PFIC 2) results from mutations in ABCB11 gene coding bile salt export pump (BSEP). ...
Progressive familial intrahepatic cholestasis type 2 (PFIC 2) results from mutations in ABCB11 gen …
Clinical profiles and diagnostic challenges in 1158 children with rare hepatobiliary disorders.
Dong Y, Wang J, Zhu S, Zheng H, Wang C, Zhao P. Dong Y, et al. Pediatr Res. 2021 Jan;89(1):238-245. doi: 10.1038/s41390-020-0888-4. Epub 2020 Apr 12. Pediatr Res. 2021. PMID: 32289814
Some novel variants in cases with genetic diseases (for example, two variants of c.3638G>T and c.1435G>C in a patient with progressive familial intrahepatic cholestasis type 2) were identified. ...
Some novel variants in cases with genetic diseases (for example, two variants of c.3638G>T and c.1435G>C in a patient with progress …
ABCB11 gene mutations in Chinese children with progressive intrahepatic cholestasis and low gamma glutamyltransferase.
Liu LY, Wang ZL, Wang XH, Zhu QR, Wang JS. Liu LY, et al. Liver Int. 2010 Jul;30(6):809-15. doi: 10.1111/j.1478-3231.2009.02112.x. Epub 2009 Oct 21. Liver Int. 2010. PMID: 19845854
BACKGROUND: Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a severe autosomal recessive liver disorder of childhood that can cause cholestasis and progress to end-stage liver disease. ...
BACKGROUND: Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a severe autosomal rec …
Serum Autotaxin Activity Correlates With Pruritus in Pediatric Cholestatic Disorders.
Kremer AE, Gonzales E, Schaap FG, Oude Elferink RP, Jacquemin E, Beuers U. Kremer AE, et al. J Pediatr Gastroenterol Nutr. 2016 Apr;62(4):530-5. doi: 10.1097/MPG.0000000000001044. J Pediatr Gastroenterol Nutr. 2016. PMID: 26628447
METHODS: A cohort of 45 children consisting of 14 patients experiencing itching (Alagille syndrome [n = 10], complete extrahepatic biliary atresia [n = 2], neonatal sclerosing cholangitis (n = 1), progressive familial intrahepatic cholestasis type …
METHODS: A cohort of 45 children consisting of 14 patients experiencing itching (Alagille syndrome [n = 10], complete extrahepatic biliary a …
19 results