Fabry disease: where are we now?
| dc.contributor.author | Turkmen, K. | |
| dc.contributor.author | Baloglu, I. | |
| dc.date.accessioned | 2024-02-23T13:59:28Z | |
| dc.date.available | 2024-02-23T13:59:28Z | |
| dc.date.issued | 2020 | |
| dc.department | NEÜ | en_US |
| dc.description.abstract | Fabry disease (FD) is a multisystemic X-linked disorder characterized by the accumulation of lysosomal globotriaosylceramide (Gb3) secondary to decreased activity of alpha-galactosidase in cells. Generally, males are more severely affected due to the X-linked inheritance pattern of the disease. However, females are asymptomatic or have a less severe pattern of disease. Enzyme replacement therapy (ERT) is the cornerstone of the treatment of FD. At present, there are two forms of ERT that can be applied to FD patients. Novel therapeutic approaches including chaperone therapy, substrate reduction therapy, and gene therapy have been introduced in the era of treatment of FD. In this review, we aimed to discuss the prevalence, clinical and genetic features, pathophysiology, diagnosis, and therapeutic options in FD patients with nephropathy. | en_US |
| dc.identifier.doi | 10.1007/s11255-020-02546-3 | |
| dc.identifier.endpage | 2122 | en_US |
| dc.identifier.issn | 0301-1623 | |
| dc.identifier.issn | 1573-2584 | |
| dc.identifier.issue | 11 | en_US |
| dc.identifier.pmid | 32661622 | en_US |
| dc.identifier.scopus | 2-s2.0-85087879064 | en_US |
| dc.identifier.scopusquality | Q2 | en_US |
| dc.identifier.startpage | 2113 | en_US |
| dc.identifier.uri | https://doi.org/10.1007/s11255-020-02546-3 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.12452/11207 | |
| dc.identifier.volume | 52 | en_US |
| dc.identifier.wos | WOS:000548170700007 | en_US |
| dc.identifier.wosquality | Q3 | en_US |
| dc.indekslendigikaynak | Web of Science | en_US |
| dc.indekslendigikaynak | Scopus | en_US |
| dc.indekslendigikaynak | PubMed | en_US |
| dc.language.iso | en | en_US |
| dc.publisher | Springer | en_US |
| dc.relation.ispartof | International Urology And Nephrology | en_US |
| dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
| dc.rights | info:eu-repo/semantics/closedAccess | en_US |
| dc.subject | Fabry Disease | en_US |
| dc.subject | Inflammation | en_US |
| dc.subject | Autophagy | en_US |
| dc.subject | Apoptosis | en_US |
| dc.subject | Enzyme Replacement Therapy | en_US |
| dc.subject | Substrate Reduction Therapy | en_US |
| dc.subject | Gene Therapy | en_US |
| dc.title | Fabry disease: where are we now? | en_US |
| dc.type | Review Article | en_US |
