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Integrated diagnostic approach of pediatric neuromuscular disorders
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 이영목 | - |
dc.contributor.author | 이하늘 | - |
dc.date.accessioned | 2019-03-15T02:38:05Z | - |
dc.date.available | 2019-03-15T02:38:05Z | - |
dc.date.issued | 2018 | - |
dc.identifier.issn | 1226-1769 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/167620 | - |
dc.description.abstract | Clinical 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.statementOfResponsibility | open | - |
dc.language | Korean | - |
dc.publisher | 대한의학유전학회 | - |
dc.relation.isPartOf | Journal of Genetic Medicine (대한의학유전학회지) | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | Integrated diagnostic approach of pediatric neuromuscular disorders | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pediatrics (소아청소년과학교실) | - |
dc.contributor.googleauthor | Ha Neul Lee | - |
dc.contributor.googleauthor | Young-Mock Lee | - |
dc.identifier.doi | 10.5734/JGM.2018.15.2.55 | - |
dc.contributor.localId | A02955 | - |
dc.contributor.localId | A05699 | - |
dc.relation.journalcode | J01422 | - |
dc.identifier.eissn | 2233-9108 | - |
dc.subject.keyword | Pediatrics | - |
dc.subject.keyword | Neuromuscular diseases | - |
dc.subject.keyword | Phenotype | - |
dc.subject.keyword | Molecular diagnostic techniques. | - |
dc.contributor.alternativeName | Lee, Young Mock | - |
dc.contributor.affiliatedAuthor | 이영목 | - |
dc.contributor.affiliatedAuthor | 이하늘 | - |
dc.citation.volume | 15 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 55 | - |
dc.citation.endPage | 63 | - |
dc.identifier.bibliographicCitation | Journal of Genetic Medicine (대한의학유전학회지), Vol.15(2) : 55-63, 2018 | - |
dc.identifier.rimsid | 61039 | - |
dc.type.rims | ART | - |
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