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Fabry's disease: a case report and review of literatures reported in Korea
DC Field | Value | Language |
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dc.contributor.author | 김정호 | - |
dc.date.accessioned | 2020-07-02T17:45:50Z | - |
dc.date.available | 2020-07-02T17:45:50Z | - |
dc.date.issued | 1998 | - |
dc.identifier.issn | 0513-5796 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/177027 | - |
dc.description.abstract | Fabry's disease is a rare, X-linked disorder of the glycosphingolipid metabolism, in which a partial or total deficiency of a lysosomal alpha(α)-galactosidase results in the progressive accumulation of neutral glycosphingolipids with terminal α galactose moieties (i.e., cerebroside di- and trihexoside) in most body fluids and tissues. Accumulation of neutral glycosphingolipids occurs within the lysosomes of endothelial, perithelial, and smooth muscle cells of the myocardial and renal systems; to a lesser extent in reticuloendothelial and connective cells of the cornea; and in ganglion and perineural cells of the autonomic nervous system. In Korea, 7 cases of Fabry's disease have been reported. A 29-year-old man with fever and headache had typical skin findings and a family history of Fabry's disease, and it was confirmed through renal biopsy and enzyme assay for α-galactosidase. We report a case of Fabry's disease with a review of the literatures reported in Korea. | - |
dc.description.statementOfResponsibility | open | - |
dc.language | English | - |
dc.publisher | Yonsei University | - |
dc.relation.isPartOf | YONSEI MEDICAL JOURNAL | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.subject.MESH | Adult | - |
dc.subject.MESH | Fabry Disease/diagnosis | - |
dc.subject.MESH | Fabry Disease/metabolism | - |
dc.subject.MESH | Fabry Disease/pathology* | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Male | - |
dc.title | Fabry's disease: a case report and review of literatures reported in Korea | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Laboratory Medicine (진단검사의학교실) | - |
dc.contributor.googleauthor | Seung Yong Lee | - |
dc.contributor.googleauthor | Seung Jung Kim | - |
dc.contributor.googleauthor | Jung Il Lee | - |
dc.contributor.googleauthor | Eun Sook Kim | - |
dc.contributor.googleauthor | Chang Hoon Lee | - |
dc.contributor.googleauthor | Jeong Ho Kim | - |
dc.contributor.googleauthor | Hyeon Joo Jeong | - |
dc.contributor.googleauthor | Sung Kyu Ha | - |
dc.identifier.doi | 10.3349/ymj.1998.39.1.67 | - |
dc.contributor.localId | A00903 | - |
dc.relation.journalcode | J02813 | - |
dc.identifier.eissn | 1976-2437 | - |
dc.identifier.pmid | 9529988 | - |
dc.contributor.alternativeName | Kim, Jeong Ho | - |
dc.contributor.affiliatedAuthor | 김정호 | - |
dc.citation.volume | 39 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 67 | - |
dc.citation.endPage | 72 | - |
dc.identifier.bibliographicCitation | YONSEI MEDICAL JOURNAL, Vol.39(1) : 67-72, 1998 | - |
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