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A case of progressive familial intrahepatic cholestasis type 1 with compound heterozygous mutations of ATP8B1

โœ Scribed by Chikahiko Numakura; Daiki Abukawa; Toshiyuki Kimura; Saori Tanabe; Kiyoshi Hayasaka


Book ID
108973098
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
352 KB
Volume
53
Category
Article
ISSN
1328-8067

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Characterization of mutations in ATP8B1
โœ Leo W. J. Klomp; Julie C. Vargas; Saskia W. C. van Mil; Ludmila Pawlikowska; San ๐Ÿ“‚ Article ๐Ÿ“… 2004 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 631 KB

Progressive familial intrahepatic cholestasis (PFIC) and benign recurrent intrahepatic cholestasis (BRIC) are clinically distinct hereditary disorders. PFIC patients suffer from chronic cholestasis and develop liver fibrosis. BRIC patients experience intermittent attacks of cholestasis that resolve