Fabry disease - importance of screening in cornea verticillata: case report

Detalhes bibliográficos
Autor(a) principal: Yonamine,Fabio Yamasato
Data de Publicação: 2011
Outros Autores: Arantes,Tiago Eugênio Faria e, Muccioli,Cristina
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Arquivos brasileiros de oftalmologia (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492011000600014
Resumo: Fabry disease is an X-linked disease of glycosphingolipid (GL) metabolism. The accumulation of GL in tissues can affect multiple organ systems. Initial symptoms includes episodes of severe pain in the extremities, cornea verticillata and skin lesions. In late stages, kidney, heart and brain can be involved. This report attempts for importance of cornea verticillata in the diagnosis of Fabry disease in a young patient with pain in the lower limb extremities.
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spelling Fabry disease - importance of screening in cornea verticillata: case reportFabry disease/diagnosisCorneal opacityCase reportFabry disease is an X-linked disease of glycosphingolipid (GL) metabolism. The accumulation of GL in tissues can affect multiple organ systems. Initial symptoms includes episodes of severe pain in the extremities, cornea verticillata and skin lesions. In late stages, kidney, heart and brain can be involved. This report attempts for importance of cornea verticillata in the diagnosis of Fabry disease in a young patient with pain in the lower limb extremities.Conselho Brasileiro de Oftalmologia2011-12-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492011000600014Arquivos Brasileiros de Oftalmologia v.74 n.6 2011reponame:Arquivos brasileiros de oftalmologia (Online)instname:Conselho Brasileiro de Oftalmologia (CBO)instacron:CBO10.1590/S0004-27492011000600014info:eu-repo/semantics/openAccessYonamine,Fabio YamasatoArantes,Tiago Eugênio Faria eMuccioli,Cristinaeng2012-02-10T00:00:00Zoai:scielo:S0004-27492011000600014Revistahttp://aboonline.org.br/https://old.scielo.br/oai/scielo-oai.phpaboonline@cbo.com.br||abo@cbo.com.br1678-29250004-2749opendoar:2012-02-10T00:00Arquivos brasileiros de oftalmologia (Online) - Conselho Brasileiro de Oftalmologia (CBO)false
dc.title.none.fl_str_mv Fabry disease - importance of screening in cornea verticillata: case report
title Fabry disease - importance of screening in cornea verticillata: case report
spellingShingle Fabry disease - importance of screening in cornea verticillata: case report
Yonamine,Fabio Yamasato
Fabry disease/diagnosis
Corneal opacity
Case report
title_short Fabry disease - importance of screening in cornea verticillata: case report
title_full Fabry disease - importance of screening in cornea verticillata: case report
title_fullStr Fabry disease - importance of screening in cornea verticillata: case report
title_full_unstemmed Fabry disease - importance of screening in cornea verticillata: case report
title_sort Fabry disease - importance of screening in cornea verticillata: case report
author Yonamine,Fabio Yamasato
author_facet Yonamine,Fabio Yamasato
Arantes,Tiago Eugênio Faria e
Muccioli,Cristina
author_role author
author2 Arantes,Tiago Eugênio Faria e
Muccioli,Cristina
author2_role author
author
dc.contributor.author.fl_str_mv Yonamine,Fabio Yamasato
Arantes,Tiago Eugênio Faria e
Muccioli,Cristina
dc.subject.por.fl_str_mv Fabry disease/diagnosis
Corneal opacity
Case report
topic Fabry disease/diagnosis
Corneal opacity
Case report
description Fabry disease is an X-linked disease of glycosphingolipid (GL) metabolism. The accumulation of GL in tissues can affect multiple organ systems. Initial symptoms includes episodes of severe pain in the extremities, cornea verticillata and skin lesions. In late stages, kidney, heart and brain can be involved. This report attempts for importance of cornea verticillata in the diagnosis of Fabry disease in a young patient with pain in the lower limb extremities.
publishDate 2011
dc.date.none.fl_str_mv 2011-12-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format report
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492011000600014
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492011000600014
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0004-27492011000600014
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Conselho Brasileiro de Oftalmologia
publisher.none.fl_str_mv Conselho Brasileiro de Oftalmologia
dc.source.none.fl_str_mv Arquivos Brasileiros de Oftalmologia v.74 n.6 2011
reponame:Arquivos brasileiros de oftalmologia (Online)
instname:Conselho Brasileiro de Oftalmologia (CBO)
instacron:CBO
instname_str Conselho Brasileiro de Oftalmologia (CBO)
instacron_str CBO
institution CBO
reponame_str Arquivos brasileiros de oftalmologia (Online)
collection Arquivos brasileiros de oftalmologia (Online)
repository.name.fl_str_mv Arquivos brasileiros de oftalmologia (Online) - Conselho Brasileiro de Oftalmologia (CBO)
repository.mail.fl_str_mv aboonline@cbo.com.br||abo@cbo.com.br
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