Matches in SemOpenAlex for { <https://semopenalex.org/work/W2151963886> ?p ?o ?g. }
Showing items 1 to 74 of
74
with 100 items per page.
- W2151963886 endingPage "67" @default.
- W2151963886 startingPage "67" @default.
- W2151963886 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(alpha)-galactosidase results in the progressive accumulation of neutral glycosphingolipids with terminal alpha 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 alpha-galactosidase. We report a case of Fabry's disease with a review of the literatures reported in Korea." @default.
- W2151963886 created "2016-06-24" @default.
- W2151963886 creator A5003792129 @default.
- W2151963886 creator A5006307478 @default.
- W2151963886 creator A5010949710 @default.
- W2151963886 creator A5022103198 @default.
- W2151963886 creator A5042388176 @default.
- W2151963886 creator A5051751690 @default.
- W2151963886 creator A5059048351 @default.
- W2151963886 creator A5080053304 @default.
- W2151963886 date "1998-01-01" @default.
- W2151963886 modified "2023-09-26" @default.
- W2151963886 title "Fabry's disease: a case report and review of literatures reported in Korea" @default.
- W2151963886 doi "https://doi.org/10.3349/ymj.1998.39.1.67" @default.
- W2151963886 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9529988" @default.
- W2151963886 hasPublicationYear "1998" @default.
- W2151963886 type Work @default.
- W2151963886 sameAs 2151963886 @default.
- W2151963886 citedByCount "1" @default.
- W2151963886 crossrefType "journal-article" @default.
- W2151963886 hasAuthorship W2151963886A5003792129 @default.
- W2151963886 hasAuthorship W2151963886A5006307478 @default.
- W2151963886 hasAuthorship W2151963886A5010949710 @default.
- W2151963886 hasAuthorship W2151963886A5022103198 @default.
- W2151963886 hasAuthorship W2151963886A5042388176 @default.
- W2151963886 hasAuthorship W2151963886A5051751690 @default.
- W2151963886 hasAuthorship W2151963886A5059048351 @default.
- W2151963886 hasAuthorship W2151963886A5080053304 @default.
- W2151963886 hasBestOaLocation W21519638861 @default.
- W2151963886 hasConcept C126322002 @default.
- W2151963886 hasConcept C134018914 @default.
- W2151963886 hasConcept C142724271 @default.
- W2151963886 hasConcept C185592680 @default.
- W2151963886 hasConcept C2776931407 @default.
- W2151963886 hasConcept C2777404818 @default.
- W2151963886 hasConcept C2777687718 @default.
- W2151963886 hasConcept C2779134260 @default.
- W2151963886 hasConcept C2909637497 @default.
- W2151963886 hasConcept C55493867 @default.
- W2151963886 hasConcept C71924100 @default.
- W2151963886 hasConceptScore W2151963886C126322002 @default.
- W2151963886 hasConceptScore W2151963886C134018914 @default.
- W2151963886 hasConceptScore W2151963886C142724271 @default.
- W2151963886 hasConceptScore W2151963886C185592680 @default.
- W2151963886 hasConceptScore W2151963886C2776931407 @default.
- W2151963886 hasConceptScore W2151963886C2777404818 @default.
- W2151963886 hasConceptScore W2151963886C2777687718 @default.
- W2151963886 hasConceptScore W2151963886C2779134260 @default.
- W2151963886 hasConceptScore W2151963886C2909637497 @default.
- W2151963886 hasConceptScore W2151963886C55493867 @default.
- W2151963886 hasConceptScore W2151963886C71924100 @default.
- W2151963886 hasIssue "1" @default.
- W2151963886 hasLocation W21519638861 @default.
- W2151963886 hasLocation W21519638862 @default.
- W2151963886 hasLocation W21519638863 @default.
- W2151963886 hasOpenAccess W2151963886 @default.
- W2151963886 hasPrimaryLocation W21519638861 @default.
- W2151963886 hasRelatedWork W1985768899 @default.
- W2151963886 hasRelatedWork W2041230471 @default.
- W2151963886 hasRelatedWork W2045380837 @default.
- W2151963886 hasRelatedWork W2149584682 @default.
- W2151963886 hasRelatedWork W2151963886 @default.
- W2151963886 hasRelatedWork W2355687788 @default.
- W2151963886 hasRelatedWork W2412798610 @default.
- W2151963886 hasRelatedWork W3204238661 @default.
- W2151963886 hasRelatedWork W96328195 @default.
- W2151963886 hasRelatedWork W2782095422 @default.
- W2151963886 hasVolume "39" @default.
- W2151963886 isParatext "false" @default.
- W2151963886 isRetracted "false" @default.
- W2151963886 magId "2151963886" @default.
- W2151963886 workType "article" @default.