https://scholars.lib.ntu.edu.tw/handle/123456789/195659
DC 欄位 | 值 | 語言 |
---|---|---|
dc.contributor | 小兒科 | en |
dc.contributor.author | HSU, YAO-CHUN | en |
dc.contributor.author | CHEN, HUEY-LING | en |
dc.contributor.author | WU, MU- ZON | en |
dc.contributor.author | LIU, YU-JUNG | en |
dc.contributor.author | LEE, PO-HUANG | en |
dc.contributor.author | SHEU, JIN-CHUAN | en |
dc.contributor.author | CHEN, CHIEN-HUNG | en |
dc.contributor.author | CHEN, CHIEN- HUNG | en |
dc.creator | 許耀峻;陳慧玲;吳木榮;劉有容;李伯皇;許金川;陳健弘 | zh-tw |
dc.creator | HSU, YAO-CHUN;CHEN, HUEY-LING;WU, MU- ZON;LIU, YU-JUNG;LEE, PO-HUANG;SHEU, JIN-CHUAN;CHEN, CHIEN-HUNG;CHEN, CHIEN- HUNG | en |
dc.date | 2009 | en |
dc.date.accessioned | 2010-07-08T01:03:13Z | - |
dc.date.accessioned | 2018-07-11T18:03:52Z | - |
dc.date.available | 2010-07-08T01:03:13Z | - |
dc.date.available | 2018-07-11T18:03:52Z | - |
dc.date.issued | 2009 | - |
dc.identifier.uri | http://ntur.lib.ntu.edu.tw//handle/246246/188519 | - |
dc.description.abstract | Severe intrahepatic cholestasis with low serum gamma- glutamyltranspeptidase (gamma-GT) activity is exceptionally rare in adult patients, and its association with multi- genetic alterations of bile salt transporters has not been reported. We investigated a 25-year-old man presenting with a four-year history of jaundice. Laboratory and radiographic examinations revealed clinical pictures of progressive intrahepatic cholestasis with low gamma-GT. Serial liver histopathology demonstrated cirrhosis resulting from progressive persistent cholestatic injury. Genetic sequencing studies for the entire coding exons of ATP8B1 and ABCB11 uncovered a heterozygous missense mutation 1798 C-> T (R600W) in ATP8B1, and a homozygous nucleotide substitution 1331 T-> C (V444A) in ABCB11. In conclusion, this is a rare case of adult onset progressive intrahepatic cholestasis with low gamma-GT associated with heterozygous ATP8B1 mutation and homozygous ABCB11 polymorphism. Further studies are necessary to investigate the impact of heterozygous R600W mutation and whether other cholestatic disorders are multi-genetic. | en |
dc.language | en-us | en |
dc.language.iso | en_US | - |
dc.relation | HEPATOLOGY RESEARCH v.39 n.6 pp.625-631 | en |
dc.relation.ispartof | HEPATOLOGY RESEARCH | - |
dc.title | Adult Progressive Intrahepatic Cholestasis Associated with Genetic Variations in Atp8b1 and Abcb11 | en |
dc.type | journal article | en |
dc.relation.pages | 625-631 | - |
dc.relation.journalvolume | v.39 | - |
dc.relation.journalissue | n.6 | - |
item.openairecristype | http://purl.org/coar/resource_type/c_6501 | - |
item.openairetype | journal article | - |
item.languageiso639-1 | en_US | - |
item.grantfulltext | none | - |
item.cerifentitytype | Publications | - |
item.fulltext | no fulltext | - |
顯示於: | 醫學系 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。