About: Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis     Goto   Sponge   NotDistinct   Permalink

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Description
  • Progressive familial intrahepatic cholestasis (PFIC) type 2 is caused by mutations in ABCB11 , which encodes bile salt export pump (BSEP). We report a Thai female infant who presented with progressive cholestatic jaundice since 1 mo of age, with normal serum γ-glutamyltransferase. Immunohistochemical staining of the liver did not demonstrate BSEP along the canaliculi, while multidrug resistance protein 3 was expressed adequately.
  • Progressive familial intrahepatic cholestasis (PFIC) type 2 is caused by mutations in ABCB11 , which encodes bile salt export pump (BSEP). We report a Thai female infant who presented with progressive cholestatic jaundice since 1 mo of age, with normal serum γ-glutamyltransferase. Immunohistochemical staining of the liver did not demonstrate BSEP along the canaliculi, while multidrug resistance protein 3 was expressed adequately. (en)
Title
  • Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis
  • Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis (en)
skos:prefLabel
  • Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis
  • Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis (en)
skos:notation
  • RIV/00023001:_____/09:00002164!RIV10-MZ0-00023001
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • Z(MZ0IKEM2005)
http://linked.open...iv/cisloPeriodika
  • 15
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 330024
http://linked.open...ai/riv/idVysledku
  • RIV/00023001:_____/09:00002164
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • ABCB11; bile salt export pump; progressive familial intrahepatic cholestasis (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [E104180D3B0D]
http://linked.open...i/riv/nazevZdroje
  • World journal of gastroenterology
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 34
http://linked.open...iv/tvurceVysledku
  • Jirsa, Milan
  • Lukšan, Ondřej
  • Treepongkaruna, S.
  • Gaensan, S.
  • Kinesly, AS
  • Pienvichit, P.
  • Sornamayura, P.
http://linked.open...ain/vavai/riv/wos
  • 000269814900017
http://linked.open...n/vavai/riv/zamer
issn
  • 1007-9327
number of pages
is http://linked.open...avai/riv/vysledek of
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