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- W966740224 abstract "Progressive familial intrahepatic cholestasis (PFIC) is a progressive disorder that affects children. It is initially characterized by intrahepatic cholestasis which worsens over time. It may present with jaundice in the first weeks of life, or may appear after several months. Byler’s disease, another term for one type of PFIC, was coined after an immigrant who brought the disorder to the USA. PFIC is a rare inherited disorder in which at least three subtypes have been identified, and called PFIC-1, PFIC-2, and PFIC-3. These three subtypes carry descriptive names which partially describe them: PFIC-1 is called familial intrahepatic cholestasis, PFIC-2 may be called bile salt export pump deficiency, and PFIC-3 is multidrug resistant-associated protein deficiency. A mild not as severe form of PFIC is called benign recurrent intrahepatic cholestasis." @default.
- W966740224 created "2016-06-24" @default.
- W966740224 creator A5082991502 @default.
- W966740224 date "2010-06-20" @default.
- W966740224 modified "2023-09-26" @default.
- W966740224 title "Progressive Familial Intrahepatic Cholestasis" @default.
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- W966740224 doi "https://doi.org/10.1007/978-1-4419-6555-4_18" @default.
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