ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history.

@article{DavitSpraul2010ATP8B1AA,
  title={ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history.},
  author={Anne Davit-Spraul and Monique Fabr{\`e} and Sophie Branchereau and Christiane Baussan and Emmanuel Gonzales and Bruno Stieger and Olivier Bernard and Emmanuel Jacquemin},
  journal={Hepatology},
  year={2010},
  volume={51 5},
  pages={1645-55}
}
UNLABELLED Progressive familial intrahepatic cholestasis (PFIC) types 1 and 2 are characterized by normal serum gamma-glutamyl transferase (GGT) activity and are due to mutations in ATP8B1 (encoding FIC1) and ABCB11 (encoding bile salt export pump [BSEP]), respectively. Our goal was to evaluate the features that may distinguish PFIC1 from PFIC2 and ease their diagnosis. We retrospectively reviewed charts of 62 children with normal-GGT PFIC in whom a search for ATP8B1 and/or ABCB11 mutation… CONTINUE READING
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