https://scholars.lib.ntu.edu.tw/handle/123456789/194954
DC 欄位 | 值 | 語言 |
---|---|---|
dc.contributor | 小兒科 | en |
dc.contributor.author | CHEN, HUEY-LING | en |
dc.contributor.author | CHANG, PEI-SHIN | en |
dc.contributor.author | HSU, HEY-CHI | en |
dc.contributor.author | NI, YEN-HSUAN | en |
dc.contributor.author | HSU, HONG-YUAN | en |
dc.contributor.author | LEE, JIH-HORNG | en |
dc.contributor.author | JENG, YUNG-MING | en |
dc.contributor.author | SHAU, WEN-YI | en |
dc.contributor.author | CHANG, MEI-HWEI | en |
dc.creator | 陳慧玲;張培鑫;許輝吉;倪衍玄;許宏遠;李志鴻;鄭永銘;邵文逸;張美惠 | zh_TW |
dc.creator | CHEN, HUEY-LING;CHANG, PEI-SHIN;HSU, HEY-CHI;NI, YEN-HSUAN;HSU, HONG-YUAN;LEE, JIH-HORNG;JENG, YUNG-MING;SHAU, WEN-YI;CHANG, MEI-HWEI | en |
dc.date | 2002 | en |
dc.date.accessioned | 2008-12-29T06:14:32Z | - |
dc.date.accessioned | 2018-07-11T17:55:27Z | - |
dc.date.available | 2008-12-29T06:14:32Z | - |
dc.date.available | 2018-07-11T17:55:27Z | - |
dc.date.issued | 2002 | - |
dc.identifier.uri | http://ntur.lib.ntu.edu.tw//handle/246246/94846 | - |
dc.description.abstract | To elucidate the frequency of FIC1 (ATP8B1) and BSEP (ABCB11 ) mutations in Taiwanese children with chronic intrahepatic cholestasis with low γ- glutamyltranspeptidase (GGT) levels, we assessed 13 unrelated patients with infantile onset chronic intrahepatic cholestasis. Liver complementary DNA sequencing was performed in 7 infants for mutation analyses of FIC1 and BSEP genes. Two distinct liver histologic features were found. Group 1 (n=5) was characterized by bland cholestasis and group 2 (n=8) by giant cell transformation. Group 2 patients were associated with higher transaminase levels, α-fetoprotein levels, and early mortality. Novel FIC 1 mutations were found in all 4 patients tested in group 1, including a 74 -bp deletion, a 98-bp deletion, a nonsense, and 2 missense mutations. BSEP mutations were found in 2 of the 3 patients in group 2, including 2 missense mutations and a 1-bp deletion. Phenotypic characterization is useful to differentiate FIC1- from BSEP-related disease. | en |
dc.language | en-us | en |
dc.language.iso | en_US | - |
dc.relation | JOURNAL OF PEDIATRICS v.140 n.1 pp.119-124 | en |
dc.relation.ispartof | JOURNAL OF PEDIATRICS | - |
dc.subject | α-fetoprotein | en |
dc.subject | Benign recurrent intrahepatic cholestasis | en |
dc.subject | Bile salt export pump | en |
dc.subject | γ-Glutamyltranspeptidase | en |
dc.subject | Polymerase chain reaction | en |
dc.subject | Progressive familial intrahepatic cholestasis | en |
dc.title | Fic1 and Bsep Defects in Taiwanese Patients with Chronic Intrahepatic Cholestasis with Low γglutamyltranspeptidase Levels | en |
dc.type | journal article | en |
dc.relation.pages | 119-124 | - |
dc.relation.journalvolume | v.140 | - |
dc.relation.journalissue | n.1 | - |
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 |
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