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전형적인 MR 소견을 보인 Leigh 증후군 1예
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 김승민 | - |
dc.contributor.author | 선우일남 | - |
dc.contributor.author | 조정희 | - |
dc.date.accessioned | 2015-07-14T17:07:37Z | - |
dc.date.available | 2015-07-14T17:07:37Z | - |
dc.date.issued | 2004 | - |
dc.identifier.issn | 1225-7044 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/112260 | - |
dc.description.abstract | Leigh syndrome (LS) is a genetically and clinically heterogeneous disorder caused by metabolic defects affecting lactate/pyruvate metabolism. The consequence of the metabolic defects are decreased amounts of APT and basic cell energy productions of the nervous system. In LS, several mutations have been reported in both the nuclear and the mitochondrial genome. Here, we report a 26-year-old woman clinically diagnosed with LS having characteristic brain MR and MRS abnormalities but without known definite pathogenetic mitochondrial DNA mutations. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 545~547 | - |
dc.relation.isPartOf | Journal of the Korean Neurological Association | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | 전형적인 MR 소견을 보인 Leigh 증후군 1예 | - |
dc.title.alternative | A Case of Leigh Syndrome with Typical MRI and MRS Findings | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Neurology (신경과학) | - |
dc.contributor.googleauthor | 강정우 | - |
dc.contributor.googleauthor | 김정찬 | - |
dc.contributor.googleauthor | 선우일남 | - |
dc.contributor.googleauthor | 김승민 | - |
dc.contributor.googleauthor | 조정희 | - |
dc.contributor.googleauthor | 조필자 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.relation.journalcode | J01835 | - |
dc.subject.keyword | Leigh syndrome | - |
dc.subject.keyword | Mitochondrial disorders | - |
dc.contributor.alternativeName | Kim, Seung Min | - |
dc.contributor.alternativeName | Sunwoo, Il Nam | - |
dc.contributor.alternativeName | Cho, Jeong Hee | - |
dc.rights.accessRights | free | - |
dc.citation.volume | 22 | - |
dc.citation.number | 5 | - |
dc.citation.startPage | 545 | - |
dc.citation.endPage | 547 | - |
dc.identifier.bibliographicCitation | Journal of the Korean Neurological Association, Vol.22(5) : 545-547, 2004 | - |
dc.identifier.rimsid | 38007 | - |
dc.type.rims | ART | - |
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