Cholestasis is the predominate feature of many pediatric hepatobiliary diseases. The
physiologic flow of bile requires multiple complex processes working in concert. Bile acid …

Chronic liver disease (CLD) is one of the leading causes of disability-adjusted life years in
many countries. A recent understanding of nuclear bile acid receptor pathways has …

Background Progressive familial intrahepatic cholestasis (PFIC) is a group of inherited
paediatric liver diseases resulting from mutations in genes that impact bile secretion. We …

With the application of modern investigative technologies, cholestatic liver diseases of
genetic etiology are increasingly identified as the root cause of previously designated …

Progressive familial intrahepatic cholestasis (PFIC) is a label applied to a heterogenous
group of monogenic disorders that cause impaired intrahepatic bile flow or cholestasis. 1–4 …

Recent evidence points towards the role of genotype to understand the phenotype, predict
the natural course and long term outcome of patients with progressive familial intrahepatic …

Abstract The Progressive Familial Intrahepatic Cholestasis (PFIC) disease spectrum
encompasses a variety of genetic diseases that affect the bile production and the secretion …

With the application of modern investigative technologies, cholestatic liver diseases of
genetic etiology are increasingly identified as the root cause of previously designated …

Background Progressive familial intrahepatic cholestasis (PFIC) is a group of autosomal
recessive disorders, the most prevalent being BSEP deficiency, resulting in disrupted bile …

Abstract Background and Aims Progressive familial intrahepatic cholestasis (PFIC) is a
collective term for a heterogenous group of rare, inherited cholestasis syndromes. The …