Publication
Severe ocular involvement in hereditary gelsolin amyloidosis
| dc.contributor.author | Silva, Nisa | |
| dc.contributor.author | Beirão, João | |
| dc.date.accessioned | 2023-12-21T11:27:10Z | |
| dc.date.available | 2023-12-21T11:27:10Z | |
| dc.date.issued | 2021-10 | |
| dc.description.abstract | Hereditary gelsolin amyloidosis is a rare subtype of hereditary systemic amyloidosis. An old male presented with the characteristic triad of symptoms, including bilateral facial palsy, cutis laxa, and corneal lattice amyloidosis. The diagnosis was confirmed by the detection of the mutation in gelsolin gene located on chromosome 9. Although the presenting symptoms were highly suggestive of the disease, reports of severe ocular involvement are scarce in the literature. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | da Silva NFP, Beirão JNM. Severe ocular involvement in hereditary gelsolin amyloidosis. Porto Biomed J. 2021;6(5):e146. doi:10.1097/j.pbj.0000000000000146 | pt_PT |
| dc.identifier.doi | 10.1097/j.pbj.0000000000000146 | pt_PT |
| dc.identifier.issn | 2444-8672 | |
| dc.identifier.issn | 2444-8664 | |
| dc.identifier.uri | http://hdl.handle.net/10400.16/2898 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Wolters Kluwer | pt_PT |
| dc.relation.publisherversion | https://journals.lww.com/pbj/fulltext/2021/10000/severe_ocular_involvement_in_hereditary_gelsolin.4.aspx | pt_PT |
| dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | pt_PT |
| dc.subject | Hereditary gelsolin amyloidosis | pt_PT |
| dc.subject | Meretoja syndrome | pt_PT |
| dc.subject | corneal lattice amyloidosis | pt_PT |
| dc.subject | famylial amyloidosis finish-type | pt_PT |
| dc.title | Severe ocular involvement in hereditary gelsolin amyloidosis | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | United States of America | pt_PT |
| oaire.citation.issue | 5 | pt_PT |
| oaire.citation.startPage | e146 | pt_PT |
| oaire.citation.title | Porto Biomedical Journal | pt_PT |
| oaire.citation.volume | 6 | pt_PT |
| person.familyName | Silva | |
| person.familyName | Beirão | |
| person.givenName | Nisa | |
| person.givenName | João Nuno Melo | |
| person.identifier.ciencia-id | 0214-5233-EE9D | |
| person.identifier.orcid | 0000-0002-5607-3212 | |
| person.identifier.orcid | 0000-0001-8642-7010 | |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |
| relation.isAuthorOfPublication | ec9dd182-1d5c-459f-a034-0a14abed937e | |
| relation.isAuthorOfPublication | 03b98348-ce82-4043-bb58-db089fcc21d6 | |
| relation.isAuthorOfPublication.latestForDiscovery | ec9dd182-1d5c-459f-a034-0a14abed937e |