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The first report of a Korean/Vietnamese child with novel pathogenic variants in Asparagine Synthetase Deficiency (ASNSD) with evolving epilepsy syndromes

DC Field Value Language
dc.contributor.author나지훈-
dc.contributor.author이영목-
dc.contributor.author이현주-
dc.contributor.author이석진-
dc.date.accessioned2024-03-22T06:31:20Z-
dc.date.available2024-03-22T06:31:20Z-
dc.date.issued2024-01-
dc.identifier.issn1059-1311-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/198566-
dc.description.statementOfResponsibilityrestriction-
dc.languageEnglish-
dc.publisherElsevier-
dc.relation.isPartOfSEIZURE-EUROPEAN JOURNAL OF EPILEPSY-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.subject.MESHAspartate-Ammonia Ligase*-
dc.subject.MESHChild-
dc.subject.MESHEpilepsy* / genetics-
dc.subject.MESHEpileptic Syndromes*-
dc.subject.MESHHumans-
dc.subject.MESHIntellectual Disability*-
dc.subject.MESHMicrocephaly*-
dc.subject.MESHRepublic of Korea-
dc.subject.MESHVietnam-
dc.titleThe first report of a Korean/Vietnamese child with novel pathogenic variants in Asparagine Synthetase Deficiency (ASNSD) with evolving epilepsy syndromes-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Pediatrics (소아과학교실)-
dc.contributor.googleauthorSeok-Jin Lee-
dc.contributor.googleauthorJi-Hoon Na-
dc.contributor.googleauthorHyunjoo Lee-
dc.contributor.googleauthorYoung-Mock Lee-
dc.identifier.doi10.1016/j.seizure.2023.11.020-
dc.contributor.localIdA05215-
dc.contributor.localIdA02955-
dc.contributor.localIdA04645-
dc.relation.journalcodeJ02648-
dc.identifier.eissn1532-2688-
dc.identifier.pmid38043418-
dc.identifier.urlhttps://www.sciencedirect.com/science/article/pii/S1059131123003084-
dc.subject.keywordASNS-
dc.subject.keywordASNSD-
dc.subject.keywordAsparagine synthetase-
dc.subject.keywordEpilepsy of infancy with migrating focal seizures-
dc.subject.keywordLennox-Gastaut syndrome-
dc.subject.keywordWest syndrom-
dc.contributor.alternativeNameNa, Ji Hoon-
dc.contributor.affiliatedAuthor나지훈-
dc.contributor.affiliatedAuthor이영목-
dc.contributor.affiliatedAuthor이현주-
dc.citation.volume114-
dc.citation.startPage53-
dc.citation.endPage56-
dc.identifier.bibliographicCitationSEIZURE-EUROPEAN JOURNAL OF EPILEPSY, Vol.114 : 53-56, 2024-01-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
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