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Fabry disease: A case report and algorithmic approach to angiokeratomas

dc.contributor.authorKucukunal, Nihal Asli
dc.contributor.authorArici, Janset Erkul
dc.contributor.authorCerman, Asli Aksu
dc.contributor.authorDemirkesen, Cuyan
dc.contributor.authorAltunay, Ilknur Kivanc
dc.date.accessioned2021-03-05T11:14:44Z
dc.date.available2021-03-05T11:14:44Z
dc.identifier.citationCerman A. A. , Arici J. E. , Altunay I. K. , Demirkesen C., Kucukunal N. A. , "Fabry disease: A case report and algorithmic approach to angiokeratomas", TURKDERM-TURKISH ARCHIVES OF DERMATOLOGY AND VENEROLOGY, cilt.48, ss.97-100, 2014
dc.identifier.issn1019-214X
dc.identifier.othervv_1032021
dc.identifier.otherav_a73856ab-ffd3-4fc1-a6b7-493aea5d4de4
dc.identifier.urihttp://hdl.handle.net/20.500.12627/111795
dc.identifier.urihttps://doi.org/10.4274/turkderm.48.s25
dc.description.abstractFabry disease is an x-linked recessive metabolic storage disorder due to the deficiency of lysosomal a-galactosidase A, and the subsequent accumulation of glycosphingolipids, throughout the body. The presence of diffuse angiokeratomas in Fabry disease is a cutaneous hallmark but it is not a specific one. In this case report, we observed the features of a case of Fabry disease and reviewed the diagnostic approach to angiokeratomas.
dc.language.isoeng
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectDermatoloji
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectDERMATOLOJİ
dc.titleFabry disease: A case report and algorithmic approach to angiokeratomas
dc.typeMakale
dc.relation.journalTURKDERM-TURKISH ARCHIVES OF DERMATOLOGY AND VENEROLOGY
dc.contributor.departmentIstanbul Sisli Hamidiye Etfal Training & Research Hospital , ,
dc.identifier.volume48
dc.identifier.startpage97
dc.identifier.endpage100
dc.contributor.firstauthorID218619


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