Fabry’s Disease and Dysferlinopathy: co-occurence of two rare genetic disorders

Detalhes bibliográficos
Autor(a) principal: Pereira, Mariana Ribeiro
Data de Publicação: 2023
Outros Autores: Vanzan Filho, André Bertola, de Lemos, Isadora Versiani, Ferreira, Francisco Ramón Canale, de Souza, Fabio, de Lima, Maria Angélica de Faria Domingues, Braune, Caroline Bittar
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Brazilian Journal of Health Review
Texto Completo: https://ojs.brazilianjournals.com.br/ojs/index.php/BJHR/article/view/61497
Resumo: Fabry’s Disease (FD) is a rare X-linked inherited disorder of glycosphingolipid metabolism due to absent or deficient activity of α-galactosidase A (GLA) enzyme that can present with multisystemic involvement, including painful small fiber neuropathy. Dysferlinopathy is a heterogeneous spectrum of neuromuscular disorders inherited in an autosomal recessive manner. In this report, we present a case of co-occurrence of these two rare genetic disorders
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spelling Fabry’s Disease and Dysferlinopathy: co-occurence of two rare genetic disordersFabry’s DiseaseDysferlinpathylimb-girdle muscular dystrophycase reportFabry’s Disease (FD) is a rare X-linked inherited disorder of glycosphingolipid metabolism due to absent or deficient activity of α-galactosidase A (GLA) enzyme that can present with multisystemic involvement, including painful small fiber neuropathy. Dysferlinopathy is a heterogeneous spectrum of neuromuscular disorders inherited in an autosomal recessive manner. In this report, we present a case of co-occurrence of these two rare genetic disordersBrazilian Journals Publicações de Periódicos e Editora Ltda.2023-07-17info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://ojs.brazilianjournals.com.br/ojs/index.php/BJHR/article/view/6149710.34119/bjhrv6n4-093Brazilian Journal of Health Review; Vol. 6 No. 4 (2023); 15162-15166Brazilian Journal of Health Review; Vol. 6 Núm. 4 (2023); 15162-15166Brazilian Journal of Health Review; v. 6 n. 4 (2023); 15162-151662595-6825reponame:Brazilian Journal of Health Reviewinstname:Federação das Indústrias do Estado do Paraná (FIEP)instacron:BJRHenghttps://ojs.brazilianjournals.com.br/ojs/index.php/BJHR/article/view/61497/44336Pereira, Mariana RibeiroVanzan Filho, André Bertolade Lemos, Isadora VersianiFerreira, Francisco Ramón Canalede Souza, Fabiode Lima, Maria Angélica de Faria DominguesBraune, Caroline Bittarinfo:eu-repo/semantics/openAccess2023-09-04T13:15:39Zoai:ojs2.ojs.brazilianjournals.com.br:article/61497Revistahttp://www.brazilianjournals.com/index.php/BJHR/indexPRIhttps://ojs.brazilianjournals.com.br/ojs/index.php/BJHR/oai|| brazilianjhr@gmail.com2595-68252595-6825opendoar:2023-09-04T13:15:39Brazilian Journal of Health Review - Federação das Indústrias do Estado do Paraná (FIEP)false
dc.title.none.fl_str_mv Fabry’s Disease and Dysferlinopathy: co-occurence of two rare genetic disorders
title Fabry’s Disease and Dysferlinopathy: co-occurence of two rare genetic disorders
spellingShingle Fabry’s Disease and Dysferlinopathy: co-occurence of two rare genetic disorders
Pereira, Mariana Ribeiro
Fabry’s Disease
Dysferlinpathy
limb-girdle muscular dystrophy
case report
title_short Fabry’s Disease and Dysferlinopathy: co-occurence of two rare genetic disorders
title_full Fabry’s Disease and Dysferlinopathy: co-occurence of two rare genetic disorders
title_fullStr Fabry’s Disease and Dysferlinopathy: co-occurence of two rare genetic disorders
title_full_unstemmed Fabry’s Disease and Dysferlinopathy: co-occurence of two rare genetic disorders
title_sort Fabry’s Disease and Dysferlinopathy: co-occurence of two rare genetic disorders
author Pereira, Mariana Ribeiro
author_facet Pereira, Mariana Ribeiro
Vanzan Filho, André Bertola
de Lemos, Isadora Versiani
Ferreira, Francisco Ramón Canale
de Souza, Fabio
de Lima, Maria Angélica de Faria Domingues
Braune, Caroline Bittar
author_role author
author2 Vanzan Filho, André Bertola
de Lemos, Isadora Versiani
Ferreira, Francisco Ramón Canale
de Souza, Fabio
de Lima, Maria Angélica de Faria Domingues
Braune, Caroline Bittar
author2_role author
author
author
author
author
author
dc.contributor.author.fl_str_mv Pereira, Mariana Ribeiro
Vanzan Filho, André Bertola
de Lemos, Isadora Versiani
Ferreira, Francisco Ramón Canale
de Souza, Fabio
de Lima, Maria Angélica de Faria Domingues
Braune, Caroline Bittar
dc.subject.por.fl_str_mv Fabry’s Disease
Dysferlinpathy
limb-girdle muscular dystrophy
case report
topic Fabry’s Disease
Dysferlinpathy
limb-girdle muscular dystrophy
case report
description Fabry’s Disease (FD) is a rare X-linked inherited disorder of glycosphingolipid metabolism due to absent or deficient activity of α-galactosidase A (GLA) enzyme that can present with multisystemic involvement, including painful small fiber neuropathy. Dysferlinopathy is a heterogeneous spectrum of neuromuscular disorders inherited in an autosomal recessive manner. In this report, we present a case of co-occurrence of these two rare genetic disorders
publishDate 2023
dc.date.none.fl_str_mv 2023-07-17
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://ojs.brazilianjournals.com.br/ojs/index.php/BJHR/article/view/61497
10.34119/bjhrv6n4-093
url https://ojs.brazilianjournals.com.br/ojs/index.php/BJHR/article/view/61497
identifier_str_mv 10.34119/bjhrv6n4-093
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv https://ojs.brazilianjournals.com.br/ojs/index.php/BJHR/article/view/61497/44336
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Brazilian Journals Publicações de Periódicos e Editora Ltda.
publisher.none.fl_str_mv Brazilian Journals Publicações de Periódicos e Editora Ltda.
dc.source.none.fl_str_mv Brazilian Journal of Health Review; Vol. 6 No. 4 (2023); 15162-15166
Brazilian Journal of Health Review; Vol. 6 Núm. 4 (2023); 15162-15166
Brazilian Journal of Health Review; v. 6 n. 4 (2023); 15162-15166
2595-6825
reponame:Brazilian Journal of Health Review
instname:Federação das Indústrias do Estado do Paraná (FIEP)
instacron:BJRH
instname_str Federação das Indústrias do Estado do Paraná (FIEP)
instacron_str BJRH
institution BJRH
reponame_str Brazilian Journal of Health Review
collection Brazilian Journal of Health Review
repository.name.fl_str_mv Brazilian Journal of Health Review - Federação das Indústrias do Estado do Paraná (FIEP)
repository.mail.fl_str_mv || brazilianjhr@gmail.com
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