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Integrated diagnostic approach of pediatric neuromuscular disorders

DC FieldValueLanguage
dc.contributor.author이영목-
dc.contributor.author이하늘-
dc.contributor.author이하늘-
dc.date.accessioned2019-03-15T02:38:05Z-
dc.date.available2019-03-15T02:38:05Z-
dc.date.issued2018-
dc.identifier.issn1226-1769-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/167620-
dc.description.abstractClinical and genetic heterogeneity in association with overlapping spectrum is characteristic in pediatric neuromuscular disorders, which makes confirmative diagnosis difficult and time consuming. Considering evolution of molecular genetic diagnosis and resultant upcoming genetically modifiable therapeutic options, rapid and cost-effective genetic testing should be applied in conjunction with existing diagnostic methods of clinical examinations, laboratory tests, electrophysiologic studies and pathologic studies. Earlier correct diagnosis would enable better clinical management for these patients in addition to new genetic drug options and genetic counseling.-
dc.description.statementOfResponsibilityopen-
dc.languageKorean-
dc.publisher대한의학유전학회-
dc.relation.isPartOfJournal of Genetic Medicine (대한의학유전학회지)-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.titleIntegrated diagnostic approach of pediatric neuromuscular disorders-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Pediatrics (소아청소년과학교실)-
dc.contributor.googleauthorHa Neul Lee-
dc.contributor.googleauthorYoung-Mock Lee-
dc.identifier.doi10.5734/JGM.2018.15.2.55-
dc.contributor.localIdA02955-
dc.contributor.localIdA05699-
dc.contributor.localIdA05699-
dc.contributor.localIdA05699-
dc.contributor.localIdA05699-
dc.relation.journalcodeJ01422-
dc.identifier.eissn2233-9108-
dc.subject.keywordPediatrics-
dc.subject.keywordNeuromuscular diseases-
dc.subject.keywordPhenotype-
dc.subject.keywordMolecular diagnostic techniques.-
dc.contributor.alternativeNameLee, Young Mock-
dc.contributor.affiliatedAuthor이영목-
dc.contributor.affiliatedAuthor이하늘-
dc.contributor.affiliatedAuthor이하늘-
dc.contributor.affiliatedAuthor이하늘-
dc.contributor.affiliatedAuthor이하늘-
dc.citation.volume15-
dc.citation.number2-
dc.citation.startPage55-
dc.citation.endPage63-
dc.identifier.bibliographicCitationJournal of Genetic Medicine (대한의학유전학회지), Vol.15(2) : 55-63, 2018-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers

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