Cited 12 times in
Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation.
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 고홍 | - |
dc.contributor.author | 박영년 | - |
dc.contributor.author | 정기섭 | - |
dc.date.accessioned | 2015-04-24T17:43:41Z | - |
dc.date.available | 2015-04-24T17:43:41Z | - |
dc.date.issued | 2009 | - |
dc.identifier.issn | 1976-2283 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/105954 | - |
dc.description.abstract | Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficient glycogen branching enzyme (GBE), encoded by the GBE1 gene, resulting in the accumulation of abnormal glycogen deposits in the liver and other tissues. We treated a 20-month-old girl who presented with progressive liver cirrhosis and was diagnosed with GSD-IV, as confirmed by GBE1 gene mutation analysis, and underwent living related heterozygous donor liver transplantation. Direct sequencing of the GBE1 gene revealed that the patient was compound heterozygous for a known c.1571G>A (p.Gly264Glu) mutation a novel c.791G>A (Arg524Gln) mutation. This is the first report of a Korean patient with GSD-IV confirmed by mutation analysis, who was treated successfully by liver transplantation. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 60~63 | - |
dc.relation.isPartOf | GUT AND LIVER | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation. | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pathology (병리학) | - |
dc.contributor.googleauthor | Hye Ryun Ban | - |
dc.contributor.googleauthor | Kyung Mo Kim | - |
dc.contributor.googleauthor | Joo Young Jang | - |
dc.contributor.googleauthor | Gu-Hwan Kim | - |
dc.contributor.googleauthor | Han-Wook You | - |
dc.contributor.googleauthor | Kyungeun Kim | - |
dc.contributor.googleauthor | Eunsil Yu | - |
dc.contributor.googleauthor | Dae Yeon Kim | - |
dc.contributor.googleauthor | Ki Hun Kim | - |
dc.contributor.googleauthor | Young Joo Lee | - |
dc.contributor.googleauthor | Sung Gyu Lee | - |
dc.contributor.googleauthor | Young Nyun Park | - |
dc.contributor.googleauthor | Hong Koh | - |
dc.contributor.googleauthor | Ki Sup Chung | - |
dc.identifier.doi | 10.5009/gnl.2009.3.1.60 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A00156 | - |
dc.contributor.localId | A01563 | - |
dc.contributor.localId | A03581 | - |
dc.relation.journalcode | J00954 | - |
dc.identifier.eissn | 2005-1212 | - |
dc.identifier.pmid | 20479904 | - |
dc.subject.keyword | DNA analysis | - |
dc.subject.keyword | GBE1 | - |
dc.subject.keyword | Glycogen storage disease type IV | - |
dc.subject.keyword | Liver transplantation | - |
dc.subject.keyword | Living donors | - |
dc.contributor.alternativeName | Koh, Hong | - |
dc.contributor.alternativeName | Park, Young Nyun | - |
dc.contributor.alternativeName | Chung, Ki Sup | - |
dc.contributor.affiliatedAuthor | Koh, Hong | - |
dc.contributor.affiliatedAuthor | Park, Young Nyun | - |
dc.contributor.affiliatedAuthor | Chung, Ki Sup | - |
dc.citation.volume | 3 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 60 | - |
dc.citation.endPage | 63 | - |
dc.identifier.bibliographicCitation | GUT AND LIVER, Vol.3(1) : 60-63, 2009 | - |
dc.identifier.rimsid | 51469 | - |
dc.type.rims | ART | - |
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