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Please use this identifier to cite or link to this item: http://hdl.handle.net/20.500.12188/33613
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dc.contributor.authorGjorgjievski, Nikolaen_US
dc.contributor.authorKaranfilovski, Vlatkoen_US
dc.contributor.authorArsov, Todoren_US
dc.contributor.authorDzekova Vidimliski, Pavlinaen_US
dc.contributor.authorSeverova Andreevska, Galinaen_US
dc.contributor.authorSelim, GJulshenen_US
dc.contributor.authorDejanov, Petaren_US
dc.contributor.authorJordanova, Vasilenaen_US
dc.contributor.authorMarinova, Ivelinaen_US
dc.contributor.authorPaskalev, Emilen_US
dc.contributor.authorNikolov, Igoren_US
dc.date.accessioned2025-05-29T06:46:28Z-
dc.date.available2025-05-29T06:46:28Z-
dc.date.issued2024-
dc.identifier.issn1664-8021-
dc.identifier.urihttp://hdl.handle.net/20.500.12188/33613-
dc.description.abstractFabry disease is a rare X-linked lysosomal storage disorder caused by α-galactosidase A (α-Gal A) deficiency. Reduced or absent enzyme activity causes progressive lysosomal accumulation of globotriaosylceramide (Lyso-Gb3) in various cells throughout the body to trigger inflammation and fibrosis.en_US
dc.language.isoenen_US
dc.publisherFrontiers Media SAen_US
dc.relation.ispartofFrontiers in Geneticsen_US
dc.subjectFabry diseaseen_US
dc.subjectchronic kidney diseaseen_US
dc.subjecthemodialysisen_US
dc.subjectα-galactosidase Aen_US
dc.subjectX-linked disorderen_US
dc.titleCase report: First diagnosis of Fabry disease in North Macedonia in a patient presenting with kidney failure on hemodialysisen_US
dc.typeArticleen_US
dc.identifier.doi10.3389/fgene.2024.1415906-
dc.identifier.urlhttps://www.frontiersin.org/articles/10.3389/fgene.2024.1415906/full-
dc.identifier.volume15-
item.grantfulltextnone-
item.fulltextNo Fulltext-
crisitem.author.deptFaculty of Medicine-
crisitem.author.deptFaculty of Medicine-
crisitem.author.deptFaculty of Medicine-
crisitem.author.deptFaculty of Medicine-
crisitem.author.deptFaculty of Medicine-
crisitem.author.deptFaculty of Medicine-
crisitem.author.deptFaculty of Medicine-
Appears in Collections:Faculty of Medicine: Journal Articles
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