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References from Duodenal fluid analysis of 13 patients with progressive familial intrahepatic cholestasis type 2 from a single institution. Local targets link to admitted publications; unresolved targets remain external evidence.
Progressive familial intrahepatic cholestasis.
10.1016/j.jceh.2013.10.005 · 2014 · External reference
Jaundice revisited: recent advances in the diagnosis and treatment of inherited cholestatic liver diseases.
10.1186/s12929-018-0475-8 · 2018 · External reference
Familial intrahepatic cholestasis: new and wide perspectives.
10.1016/j.dld.2019.04.013 · 2019 · External reference
Placebo-controlled randomized trial of an intestinal bile salt transport inhibitor for pruritus in alagille syndrome.
10.1002/hep4.1244 · 2018 · External reference
Maralixibat for the treatment of PFIC: long-term, IBAT inhibition in an open-label, Phase 2 study.
10.1002/hep4.1980 · 2022 · External reference
A rare BSEP mutation associated with a mild form of progressive familial intrahepatic cholestasis type 2.
10.5604/01.3001.0009.8604 · 2017 · External reference
Phenotypic differences in PFIC2 and BRIC2 correlate with protein stability of mutant Bsep and impaired taurocholate secretion in MDCK II cells.
10.1152/ajpgi.00367.2007 · 2008 · External reference
Genotype correlates with the natural history of severe bile salt export pump deficiency.
10.1016/j.jhep.2020.02.007 · 2020 · External reference
Clinical assessment of differential diagnostic methods in infants with cholestasis due to biliary atresia or non-biliary atresia.
10.1007/s11596-018-1857-6 · 2018 · External reference
Bile acid synthesis: from nature to the chemical modification and synthesis and their applications as drugs and nutrients.
10.3389/fphar.2018.00939 · 2018 · External reference
Combined mutations of canalicular transporter proteins cause severe intrahepatic cholestasis of pregnancy.
10.1053/j.gastro.2006.05.003 · 2006 · External reference
Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy.
10.1136/gut.2008.159541 · 2009 · External reference
Effect of a Common Genetic Variant (p.V444A) in the bile salt export pump on the inhibition of bile acid transport by cholestatic medications.
10.1021/acs.molpharmaceut.8b01124 · 2019 · External reference
Genetic variations of bile salt transporters as predisposing factors for drug-induced cholestasis, intrahepatic cholestasis of pregnancy and therapeutic response of viral hepatitis.
10.1517/17425255.2011.557067 · 2011 · External reference
No contribution of the ABCB11 p.444A polymorphism in Japanese patients with drug-induced cholestasis.
10.1124/dmd.114.061325 · 2015 · External reference
Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants.
10.1016/j.jhep.2017.07.004 · 2017 · External reference
Heterozygous bile salt export pump deficiency: a possible genetic predisposition to transient neonatal cholestasis.
10.1097/01.mpg.0000184429.34001.68 · 2006 · External reference
Systematic review of progressive familial intrahepatic cholestasis.
10.1016/j.clinre.2018.07.010 · 2019 · External reference
Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.
10.1053/j.gastro.2008.01.038 · 2008 · External reference
Normal gamma glutamyl transferase levels at presentation predict poor outcome in biliary atresia.
10.1097/mpg.0000000000002563 · 2020 · External reference
Progressive familial intrahepatic cholestasis.
10.1016/j.cld.2018.06.003 · 2018 · External reference
Disorders of bile acid synthesis.
10.1007/s10545-010-9259-3 · 2011 · External reference
Allograft steatohepatitis in progressive familial intrahepatic cholestasis type 1 after living donor liver transplantation.
10.1002/lt.21686 · 2009 · External reference
ATP8B1 is essential for maintaining normal hearing.
10.1073/pnas.0807919106 · 2009 · External reference
Progressive familial intrahepatic cholestasis.
10.1186/1750-1172-4-1 · 2009 · External reference
The duodenal tube test is more specific than hepatobiliary scintigraphy for identifying bile excretion in the differential diagnosis of biliary atresia.
10.1007/s00595-020-02010-w · 2020 · External reference
Placebo-controlled randomized trial of an intestinal bile salt transport inhibitor for pruritus in alagille syndrome.
10.1002/hep4.1244 · ExternalCitation · doi-reference
Maralixibat for the treatment of PFIC: long-term, IBAT inhibition in an open-label, Phase 2 study.
10.1002/hep4.1980 · ExternalCitation · doi-reference
Allograft steatohepatitis in progressive familial intrahepatic cholestasis type 1 after living donor liver transplantation.
10.1002/lt.21686 · ExternalCitation · doi-reference
The duodenal tube test is more specific than hepatobiliary scintigraphy for identifying bile excretion in the differential diagnosis of biliary atresia.
10.1007/s00595-020-02010-w · ExternalCitation · doi-reference
Disorders of bile acid synthesis.
10.1007/s10545-010-9259-3 · ExternalCitation · doi-reference
Clinical assessment of differential diagnostic methods in infants with cholestasis due to biliary atresia or non-biliary atresia.
10.1007/s11596-018-1857-6 · ExternalCitation · doi-reference
Progressive familial intrahepatic cholestasis.
10.1016/j.cld.2018.06.003 · ExternalCitation · doi-reference
Systematic review of progressive familial intrahepatic cholestasis.
10.1016/j.clinre.2018.07.010 · ExternalCitation · doi-reference
Familial intrahepatic cholestasis: new and wide perspectives.
10.1016/j.dld.2019.04.013 · ExternalCitation · doi-reference
Progressive familial intrahepatic cholestasis.
10.1016/j.jceh.2013.10.005 · ExternalCitation · doi-reference
Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants.
10.1016/j.jhep.2017.07.004 · ExternalCitation · doi-reference
Genotype correlates with the natural history of severe bile salt export pump deficiency.
10.1016/j.jhep.2020.02.007 · ExternalCitation · doi-reference
Effect of a Common Genetic Variant (p.V444A) in the bile salt export pump on the inhibition of bile acid transport by cholestatic medications.
10.1021/acs.molpharmaceut.8b01124 · ExternalCitation · doi-reference
Combined mutations of canalicular transporter proteins cause severe intrahepatic cholestasis of pregnancy.
10.1053/j.gastro.2006.05.003 · ExternalCitation · doi-reference
Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.
10.1053/j.gastro.2008.01.038 · ExternalCitation · doi-reference
ATP8B1 is essential for maintaining normal hearing.
10.1073/pnas.0807919106 · ExternalCitation · doi-reference
Heterozygous bile salt export pump deficiency: a possible genetic predisposition to transient neonatal cholestasis.
10.1097/01.mpg.0000184429.34001.68 · ExternalCitation · doi-reference
Normal gamma glutamyl transferase levels at presentation predict poor outcome in biliary atresia.
10.1097/mpg.0000000000002563 · ExternalCitation · doi-reference
No contribution of the ABCB11 p.444A polymorphism in Japanese patients with drug-induced cholestasis.
10.1124/dmd.114.061325 · ExternalCitation · doi-reference
Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy.
10.1136/gut.2008.159541 · ExternalCitation · doi-reference
Phenotypic differences in PFIC2 and BRIC2 correlate with protein stability of mutant Bsep and impaired taurocholate secretion in MDCK II cells.
10.1152/ajpgi.00367.2007 · ExternalCitation · doi-reference
Progressive familial intrahepatic cholestasis.
10.1186/1750-1172-4-1 · ExternalCitation · doi-reference
Jaundice revisited: recent advances in the diagnosis and treatment of inherited cholestatic liver diseases.
10.1186/s12929-018-0475-8 · ExternalCitation · doi-reference
Genetic variations of bile salt transporters as predisposing factors for drug-induced cholestasis, intrahepatic cholestasis of pregnancy and therapeutic response of viral hepatitis.
10.1517/17425255.2011.557067 · ExternalCitation · doi-reference
Bile acid synthesis: from nature to the chemical modification and synthesis and their applications as drugs and nutrients.
10.3389/fphar.2018.00939 · ExternalCitation · doi-reference
A rare BSEP mutation associated with a mild form of progressive familial intrahepatic cholestasis type 2.
10.5604/01.3001.0009.8604 · ExternalCitation · doi-reference
