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A Case of Metachromatic Leukodystrophy Confirmed by Molecular Genetic Analysis

DC Field Value Language
dc.contributor.author강훈철-
dc.contributor.author김흥동-
dc.contributor.author이영목-
dc.contributor.author이준수-
dc.contributor.author이지현-
dc.date.accessioned2014-12-20T17:43:11Z-
dc.date.available2014-12-20T17:43:11Z-
dc.date.issued2011-
dc.identifier.issn1226-6884-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/95133-
dc.description.abstractMetachromatic leukodystrophy (MLD) is the rare neurometabolic disease caused by the deficiency of the enzyme arylsulfatase A resulting in a deficiency of sulfatide degradation and the target gene is ARSA gene. We report a case of the late infantile form of MLD that was confirmed by means of enzyme assay and gene analysis with typical brain MRI and MR spectroscopy finding.-
dc.description.statementOfResponsibilityopen-
dc.format.extent272~276-
dc.languageKorean-
dc.publisher대한소아신경학회-
dc.relation.isPartOfJournal of the Korean Child Neurology Society-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.titleA Case of Metachromatic Leukodystrophy Confirmed by Molecular Genetic Analysis-
dc.title.alternative유전자 검사로 확진 된 이염색 백색질 장애 환아 1례-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Pediatrics (소아과학)-
dc.contributor.googleauthorJi Hyun Lee-
dc.contributor.googleauthorKyong Bok Min-
dc.contributor.googleauthorYoung-Mock Lee-
dc.contributor.googleauthorHoon Chul Kang-
dc.contributor.googleauthorJoon Soo Lee-
dc.contributor.googleauthorHeung Dong Kim-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA03216-
dc.contributor.localIdA00102-
dc.contributor.localIdA01208-
dc.contributor.localIdA02955-
dc.contributor.localIdA03177-
dc.relation.journalcodeJ01815-
dc.subject.keywordMetachromatic leukodystrophy-
dc.subject.keywordArylsulfatase A-
dc.subject.keywordARSA gene-
dc.subject.keywordMRI-
dc.subject.keywordMR spectroscopy-
dc.contributor.alternativeNameKang, Hoon Chul-
dc.contributor.alternativeNameKim, Heung Dong-
dc.contributor.alternativeNameLee, Young Mock-
dc.contributor.alternativeNameLee, Joon Soo-
dc.contributor.alternativeNameLee, Ji Hyun-
dc.contributor.affiliatedAuthorLee, Ji Hyun-
dc.contributor.affiliatedAuthorKang, Hoon Chul-
dc.contributor.affiliatedAuthorKim, Heung Dong-
dc.contributor.affiliatedAuthorLee, Young Mock-
dc.contributor.affiliatedAuthorLee, Joon Soo-
dc.rights.accessRightsfree-
dc.citation.volume19-
dc.citation.number3-
dc.citation.startPage272-
dc.citation.endPage276-
dc.identifier.bibliographicCitationJournal of the Korean Child Neurology Society, Vol.19(3) : 272-276, 2011-
dc.identifier.rimsid28118-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
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