Genetic and phenotypic features familial intrahepatic cholestasis: case report
Familial intrahepatic cholestasis is a heterogeneous group of genetic disorders affecting the secretion and transport of bile acids. Progressive familial intrahepatic cholestasis (PFIC) may debut at different periods of childhood and in adults. Currently,
E. A. Kurmaeva +5 more
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A. Halawi, N. Ibrahim, R. Bitar
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Molecular Mechanisms of Progressive Familial Intrahepatic Cholestasis
Bile secretion is dependent on the structural and functional integrity of membrane transport systems in hepatocytes and cholangiocytes. Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of disorders resulting from mutations in
Amala Alenchery +4 more
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Recurrent Cholestatic Jaundice in a Young Indian Adult: A Clinical Diagnosis of Benign Recurrent Intrahepatic Cholestasis. [PDF]
Panda SS +3 more
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Adult-Onset Alagille Syndrome Presenting With Recurrent Cholestasis: A Rare Genetic Diagnosis Confirmed by Whole Exome Sequencing. [PDF]
Kolse SD, Deoke SA, Agrawal A, Domki K.
europepmc +1 more source
Postoperative Cholestasis After Uncomplicated Laparoscopic Cholecystectomy: A Case Report. [PDF]
Cao SY, Lazar DJ.
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Reversal of surgical biliary diversion with ileal bile acid transport inhibitors: A new chapter in progressive familiar intrahepatic cholestasis type 1 management? [PDF]
Botelho T +6 more
europepmc +1 more source
Cefadroxil-associated cholestatic liver injury presenting as vanishing bile duct syndrome: a case report. [PDF]
Soldera J, Salgado K.
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Use of Next-Generation Sequencing and Whole-Exome Sequencing in the Diagnosis of Adult-Onset Familial Intrahepatic Cholestasis: Challenges in Interpreting Variants of Uncertain Significance. [PDF]
Conti A +7 more
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