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Fabry's disease: a case report and review of literatures reported in Korea

DC Field Value Language
dc.contributor.author김정호-
dc.date.accessioned2020-07-02T17:45:50Z-
dc.date.available2020-07-02T17:45:50Z-
dc.date.issued1998-
dc.identifier.issn0513-5796-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/177027-
dc.description.abstractFabry'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.statementOfResponsibilityopen-
dc.languageEnglish-
dc.publisherYonsei University-
dc.relation.isPartOfYONSEI MEDICAL JOURNAL-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.subject.MESHAdult-
dc.subject.MESHFabry Disease/diagnosis-
dc.subject.MESHFabry Disease/metabolism-
dc.subject.MESHFabry Disease/pathology*-
dc.subject.MESHHumans-
dc.subject.MESHMale-
dc.titleFabry's disease: a case report and review of literatures reported in Korea-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Laboratory Medicine (진단검사의학교실)-
dc.contributor.googleauthorSeung Yong Lee-
dc.contributor.googleauthorSeung Jung Kim-
dc.contributor.googleauthorJung Il Lee-
dc.contributor.googleauthorEun Sook Kim-
dc.contributor.googleauthorChang Hoon Lee-
dc.contributor.googleauthorJeong Ho Kim-
dc.contributor.googleauthorHyeon Joo Jeong-
dc.contributor.googleauthorSung Kyu Ha-
dc.identifier.doi10.3349/ymj.1998.39.1.67-
dc.contributor.localIdA00903-
dc.relation.journalcodeJ02813-
dc.identifier.eissn1976-2437-
dc.identifier.pmid9529988-
dc.contributor.alternativeNameKim, Jeong Ho-
dc.contributor.affiliatedAuthor김정호-
dc.citation.volume39-
dc.citation.number1-
dc.citation.startPage67-
dc.citation.endPage72-
dc.identifier.bibliographicCitationYONSEI MEDICAL JOURNAL, Vol.39(1) : 67-72, 1998-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers

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