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A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum
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| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Yun, J. W. | - |
| dc.contributor.author | Jo, K. I. | - |
| dc.contributor.author | Woo, H. I. | - |
| dc.contributor.author | Lee, S. -Y. | - |
| dc.contributor.author | Ki, C. -S. | - |
| dc.contributor.author | Kim, J. -W. | - |
| dc.contributor.author | Song, J. | - |
| dc.contributor.author | Lee, D. H. | - |
| dc.contributor.author | Lee, Y. -W. | - |
| dc.contributor.author | Park, H. -D. | - |
| dc.date.accessioned | 2021-08-11T20:44:54Z | - |
| dc.date.available | 2021-08-11T20:44:54Z | - |
| dc.date.issued | 2015-02 | - |
| dc.identifier.issn | 0009-9163 | - |
| dc.identifier.issn | 1399-0004 | - |
| dc.identifier.uri | https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/10916 | - |
| dc.format.extent | 3 | - |
| dc.language | 영어 | - |
| dc.language.iso | ENG | - |
| dc.publisher | Blackwell Publishing Inc. | - |
| dc.title | A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum | - |
| dc.type | Article | - |
| dc.publisher.location | 미국 | - |
| dc.identifier.doi | 10.1111/cge.12350 | - |
| dc.identifier.scopusid | 2-s2.0-84921433454 | - |
| dc.identifier.wosid | 000348720600017 | - |
| dc.identifier.bibliographicCitation | Clinical Genetics, v.87, no.2, pp 196 - 198 | - |
| dc.citation.title | Clinical Genetics | - |
| dc.citation.volume | 87 | - |
| dc.citation.number | 2 | - |
| dc.citation.startPage | 196 | - |
| dc.citation.endPage | 198 | - |
| dc.type.docType | Letter | - |
| dc.description.isOpenAccess | N | - |
| dc.description.journalRegisteredClass | sci | - |
| dc.description.journalRegisteredClass | scie | - |
| dc.description.journalRegisteredClass | scopus | - |
| dc.relation.journalResearchArea | Genetics & Heredity | - |
| dc.relation.journalWebOfScienceCategory | Genetics & Heredity | - |
| dc.subject.keywordPlus | METABOLISM | - |
| dc.subject.keywordAuthor | A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum. | - |
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Related Researcher
- Lee, Yong Wha
- College of Medicine (Department of Clinical Pathology)