Case report of a young patient with transthyretin amyloidosis associated with Gly67Ala mutation

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dc.authoridVeysel Sabri Hançer / 0000-0003-2994-1077en_US
dc.authorscopusidVeysel Sabri Hançer / 6506533543
dc.authorwosidVeysel Sabri Hançer / X-8971-2018
dc.date.accessioned2020-08-30T20:06:53Z
dc.date.available2020-08-30T20:06:53Z
dc.date.issued2019
dc.departmentİstinye Üniversitesi, Tıp Fakültesi, Temel Tıp Bilimleri Bölümüen_US
dc.description16th International Symposium on Amyloidosis (ISA) -- MAR 26-29, 2018 -- Kumamoto, JAPANen_US
dc.description.abstractHereditary transthyretin-mediated amyloidosis (hATTR) is a rare, systemic and progressive autosomal dominant disease caused by mutations in the TTR gene. Systemic deposition of amyloidogenic mutant transthyretin results in organ dysfunction [1]. While the Val30Met has been considered to be the most common mutation there have been more than 120 amyloidogenic TTR mutations reported worldwide [2]. Phenotypic expression of hATTR is heterogeneous and influenced by TTR genotype, geographic location and other genetic and environmental factors [3]. The heterogeneity of this rare disease makes its diagnosis challenging.en_US
dc.description.sponsorshipPfizer, Alnylam Pharmaceut, Sanofi Genzyme, Prothena, Ionis Pharmaceut, Janssen Pharmaceut Inc, Eidos Therapeut, Takeda Pharmaceut Co Ltd, Nihon Pharmaceut Co Ltd, Sumitomo Dainippon Pharma, GlaxoSmithKline K K, Dojin Mol Technologies Inc, Celgene K K, Roche Diagnost K K, Daiichi Sankyo Co Ltd, Novartis Pharma Co Ltd, Mochida Pharmaceut Co Ltd, Astellas Pharma Inc, Chest M I Inc, Eisai Co Ltd, Otsuka Pharmaceut Co Ltd, Bristol Myers Squibb Co, Fujifilm RI Pharma Co Ltd, Kyowa Hakko Kirin Co Ltd, Eiken Chem Co Ltd, FP Pharmaceut Corp, Bayer Yakuhin Ltd, Japan Blood Prod Org, UCB Japan Co Ltd, Teijin Pharma Ltd, Otsuka Pharmaceut Factory Inc, Cyberdyne Inc, IDS Co Ltd, Boehringer Ingenheim Ltd, AbbVie GK, Sysmex Corp, HouRai Medech Co Ltd, Yamashita Med Instruments Co Ltd, NPO Corp Kibou no Morien_US
dc.identifier.citationSalihoglu, A., Yildirim, S., Ar, M. C., Hancer, V. S., Bozcan, S., Yilmaz, U., ... & Celik, A. F. (2019). Case report of a young patient with transthyretin amyloidosis associated with Gly67Ala mutation. Amyloid, 26(sup1), 75-76.en_US
dc.identifier.doi10.1080/13506129.2019.1583194en_US
dc.identifier.endpage76en_US
dc.identifier.issn1350-6129en_US
dc.identifier.issn1744-2818en_US
dc.identifier.pmid31343303en_US
dc.identifier.scopus2-s2.0-85069749415en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage75en_US
dc.identifier.urihttps://doi.org/10.1080/13506129.2019.1583194
dc.identifier.urihttps://hdl.handle.net/20.500.12713/645
dc.identifier.volume26en_US
dc.identifier.wosWOS:000477775700042en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorHançer, Veysel Sabrien_US
dc.language.isoenen_US
dc.publisherTaylor & Francis Ltden_US
dc.relation.ispartofAmyloid-Journal of Protein Folding Disordersen_US
dc.relation.publicationcategoryKonferans Öğesi - Uluslararası - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.titleCase report of a young patient with transthyretin amyloidosis associated with Gly67Ala mutationen_US
dc.typeConference Objecten_US

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