Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023001%3A_____%2F09%3A00002164" target="_blank" >RIV/00023001:_____/09:00002164 - isvavai.cz</a>

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis

Original language 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 ?-glutamyltransferase. Immunohistochemical staining of the liver did not demonstrate BSEP along the canaliculi, while multidrug resistance protein 3 was expressed adequately.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FB - Endocrinology, diabetology, metabolism, nutrition

OECD FORD branch

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Project

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Continuities

Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2009

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

World journal of gastroenterology

ISSN

1007-9327

e-ISSN

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Volume of the periodical

34

Issue of the periodical within the volume

15

Country of publishing house

US - UNITED STATES

Number of pages

4

Pages from-to

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UT code for WoS article

000269814900017

EID of the result in the Scopus database

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