Expanding etiology of progressive familial intrahepatic cholestasis

@article{Henkel2019ExpandingEO,
  title={Expanding etiology of progressive familial intrahepatic cholestasis},
  author={Sarah A F Henkel and Judy H. Squires and M. Ayers and A. Ganoza and Patrick Mckiernan and J. Squires},
  journal={World Journal of Hepatology},
  year={2019},
  volume={11},
  pages={450 - 463}
}
  • Sarah A F Henkel, Judy H. Squires, +3 authors J. Squires
  • Published 2019
  • Medicine
  • World Journal of Hepatology
    • BACKGROUND Progressive familial intrahepatic cholestasis (PFIC) refers to a disparate group of autosomal recessive disorders that are linked by the inability to appropriately form and excrete bile from hepatocytes, resulting in a hepatocellular form of cholestasis. While the diagnosis of such disorders had historically been based on pattern recognition of unremitting cholestasis without other identified molecular or anatomic cause, recent scientific advancements have uncovered multiple specific… CONTINUE READING
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    References

    SHOWING 1-10 OF 87 REFERENCES
    Progressive familial intrahepatic cholestasis.
    • 222
    • PDF
    New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications
    • 21
    • PDF
    A Drug Regimen for Progressive Familial Cholestasis Type 2
    • 6
    • PDF
    Treatment of progressive familial intrahepatic cholestasis: Liver transplantation or partial external biliary diversion
    • 82
    Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum.
    • 109
    Selective surgical management of progressive familial intrahepatic cholestasis (Byler's disease).
    • 122
    • PDF
    Histologic Pathology of the Liver in Progressive Familial Intrahepatic Cholestasis
    • 111
    Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC‐1] and Byler syndrome): Evidence for heterogeneity
    • 233
    Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis
    • 130
    • PDF
    Clinical Variability After Partial External Biliary Diversion in Familial Intrahepatic Cholestasis 1 Deficiency
    • 6
    • PDF