Publication
Use of MALDI-TOF Mass Spectrometry to Assay the Transthyretin V30M Mutation in Serum From a Liver Transplant Donor
| dc.contributor.author | Lacerda, Pedro C. | |
| dc.contributor.author | Moreira, Luciana | |
| dc.contributor.author | Vitorino, Rui | |
| dc.contributor.author | Costa, Paulo P. | |
| dc.date.accessioned | 2016-02-15T12:37:33Z | |
| dc.date.available | 2016-02-15T12:37:33Z | |
| dc.date.issued | 2015-05 | |
| dc.description.abstract | Familial amyloidotic polyneuropathy (FAP), Portuguese type, or ATTR V30M is an autosomal dominant inherited disorder caused by a mutation in the transthyretin gene, with a valine/methionine substitution at position 30 (TTRV30M). ATTRV30Mis characterized by a progressive sensory/autonomic polyneuropathy and multiple organ dysfunction. Liver transplantation is the main therapeutic option,as it virtually eliminates the production of circulating TTR V30M, which occurs predominantly in the liver. | |
| dc.description.sponsorship | This work was supported by Portuguese Foundation for Science and Technology (FCT), European Union, QREN, FEDER and COMPETE for funding the QOPNA research unit (project PEst-C/QUI/UI0062/2013), RNEM (Portuguese Mass Spectrometry Network) and COST action BM1305. It was also funded by Instituto Nacional de Saúde Dr. Ricardo Jorge, INSA I.P., Portugal. | pt_PT |
| dc.identifier.citation | Transplantation. 2015 May;99(5):e33-4. doi: 10.1097/TP.0000000000000658. | pt_PT |
| dc.identifier.doi | 10.1097/TP.0000000000000658 | pt_PT |
| dc.identifier.issn | 0041-1337 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/3295 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Lippincott, Williams & Wilkins/ Transplantation Society | pt_PT |
| dc.relation.publisherversion | http://journals.lww.com/transplantjournal/Citation/2015/05000/Use_of_MALDI_TOF_Mass_Spectrometry_to_Assay_the.34.aspx | pt_PT |
| dc.subject | Hereditary Amyloidosis | pt_PT |
| dc.subject | ATTR Amyloidosis | pt_PT |
| dc.subject | TTR V30M | pt_PT |
| dc.subject | Mass Spectrometry | pt_PT |
| dc.subject | MALDI-TOF | pt_PT |
| dc.subject | Molecular biology | pt_PT |
| dc.subject | Transplantation surgery | pt_PT |
| dc.subject | Doenças Genéticas | |
| dc.subject | Determinantes da Saúde e da Doença | |
| dc.title | Use of MALDI-TOF Mass Spectrometry to Assay the Transthyretin V30M Mutation in Serum From a Liver Transplant Donor | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.awardURI | info:eu-repo/grantAgreement/FCT/COMPETE/PEst-C%2FQUI%2FUI0062%2F2013/PT | |
| oaire.citation.endPage | e34 | pt_PT |
| oaire.citation.startPage | e33 | pt_PT |
| oaire.citation.title | Transplantation | pt_PT |
| oaire.citation.volume | 99(5) | pt_PT |
| oaire.fundingStream | COMPETE | |
| project.funder.identifier | http://doi.org/10.13039/501100001871 | |
| project.funder.name | Fundação para a Ciência e a Tecnologia | |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | article | pt_PT |
| relation.isProjectOfPublication | cefc5003-39e1-47fb-9a4d-188116bfe083 | |
| relation.isProjectOfPublication.latestForDiscovery | cefc5003-39e1-47fb-9a4d-188116bfe083 |
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