Publication
Fibrinogen A alpha-chain amyloidosis: a non-negligible cause of chronic kidney disease in dialysis patients
| dc.contributor.author | Tavares, Isabel | |
| dc.contributor.author | Moreira, Luciana | |
| dc.contributor.author | Costa, Paulo Pinho | |
| dc.contributor.author | Lobato, Luísa | |
| dc.date.accessioned | 2018-03-22T17:24:25Z | |
| dc.date.available | 2019-04-01T00:30:13Z | |
| dc.date.issued | 2017-03 | |
| dc.description.abstract | Background: Fibrinogen A alpha-chain (AFib) amyloidosis is a rare and late-onset disease, that result from amyloidogenic autosomal dominant mutations in the gene-encoding AFib (FGA). Patients invariably develop chronic kidney disease (CKD), typically progressing to end-stage renal failure within 5 years of recognition of renal involvement [1]. In Portugal, four apparently unrelated patients with AFib amyloidosis were identified in the district of Braga, Northern Portugal. They all carried the FGA p.Glu545Val mutation, three were heterozygous and one homozygous [2,3]. This observation led us to assess the prevalence of AFibE526V (p.Glu545Val) amyloidosis among Portuguese patients undergoing hemodialysis in the same district, through genetic screening for the FGA p.Glu545Val mutation. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Amyloid. 2017 Mar;24(sup1):153-154. doi: 10.1080/13506129.2017.1281119. | pt_PT |
| dc.identifier.doi | 10.1080/13506129.2017.1281119 | pt_PT |
| dc.identifier.issn | 1350-6129 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/5437 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Taylor & Francis/Informa Healthcare | pt_PT |
| dc.relation.publisherversion | https://www.tandfonline.com/doi/abs/10.1080/13506129.2017.1281119?journalCode=iamy20 | pt_PT |
| dc.subject | Fibrinogen A alpha-chain (AFib) Amyloidosis | pt_PT |
| dc.subject | Rare Disease | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.title | Fibrinogen A alpha-chain amyloidosis: a non-negligible cause of chronic kidney disease in dialysis patients | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 154 | pt_PT |
| oaire.citation.issue | sup1 | pt_PT |
| oaire.citation.startPage | 153 | pt_PT |
| oaire.citation.title | Amyloid:The Journal of Protein Folding Disorders | pt_PT |
| oaire.citation.volume | 24 | pt_PT |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | article | pt_PT |