Lysosomal Storage Diseases

Detalhes bibliográficos
Autor(a) principal: Alroy,Joseph
Data de Publicação: 2014
Outros Autores: Lyons,Jeremiah A.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Journal of Inborn Errors of Metabolism and Screening
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942014000100401
Resumo: Abstract Lysosomal storage diseases are a group of inherited and acquired disorders. They are characterized by interruption of recycling of cellular and extracellular molecules. Clinically, they are presented as developmental and neurological symptoms similar to other inherited and acquired disorders. This article reviews the function of lysosomes, the current mechanisms that cause the interruption of recycling, the consequences that are manifested clinically, and the methods to diagnose these disorders.
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spelling Lysosomal Storage Diseaseslysosome functionclinical manifestationsdiagnostic toolsAbstract Lysosomal storage diseases are a group of inherited and acquired disorders. They are characterized by interruption of recycling of cellular and extracellular molecules. Clinically, they are presented as developmental and neurological symptoms similar to other inherited and acquired disorders. This article reviews the function of lysosomes, the current mechanisms that cause the interruption of recycling, the consequences that are manifested clinically, and the methods to diagnose these disorders.Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)2014-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942014000100401Journal of Inborn Errors of Metabolism and Screening v.2 2014reponame:Journal of Inborn Errors of Metabolism and Screeninginstname:Instituto Genética para Todos (IGPT)instacron:IGPT10.1177/2326409813517663info:eu-repo/semantics/openAccessAlroy,JosephLyons,Jeremiah A.eng2019-07-12T00:00:00Zoai:scielo:S2326-45942014000100401Revistahttp://jiems-journal.org/ONGhttps://old.scielo.br/oai/scielo-oai.phpjiems@jiems-journal.org||rgiugliani@hcpa.edu.br2326-45942326-4594opendoar:2019-07-12T00:00Journal of Inborn Errors of Metabolism and Screening - Instituto Genética para Todos (IGPT)false
dc.title.none.fl_str_mv Lysosomal Storage Diseases
title Lysosomal Storage Diseases
spellingShingle Lysosomal Storage Diseases
Alroy,Joseph
lysosome function
clinical manifestations
diagnostic tools
title_short Lysosomal Storage Diseases
title_full Lysosomal Storage Diseases
title_fullStr Lysosomal Storage Diseases
title_full_unstemmed Lysosomal Storage Diseases
title_sort Lysosomal Storage Diseases
author Alroy,Joseph
author_facet Alroy,Joseph
Lyons,Jeremiah A.
author_role author
author2 Lyons,Jeremiah A.
author2_role author
dc.contributor.author.fl_str_mv Alroy,Joseph
Lyons,Jeremiah A.
dc.subject.por.fl_str_mv lysosome function
clinical manifestations
diagnostic tools
topic lysosome function
clinical manifestations
diagnostic tools
description Abstract Lysosomal storage diseases are a group of inherited and acquired disorders. They are characterized by interruption of recycling of cellular and extracellular molecules. Clinically, they are presented as developmental and neurological symptoms similar to other inherited and acquired disorders. This article reviews the function of lysosomes, the current mechanisms that cause the interruption of recycling, the consequences that are manifested clinically, and the methods to diagnose these disorders.
publishDate 2014
dc.date.none.fl_str_mv 2014-01-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942014000100401
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942014000100401
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1177/2326409813517663
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 Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)
publisher.none.fl_str_mv Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)
dc.source.none.fl_str_mv Journal of Inborn Errors of Metabolism and Screening v.2 2014
reponame:Journal of Inborn Errors of Metabolism and Screening
instname:Instituto Genética para Todos (IGPT)
instacron:IGPT
instname_str Instituto Genética para Todos (IGPT)
instacron_str IGPT
institution IGPT
reponame_str Journal of Inborn Errors of Metabolism and Screening
collection Journal of Inborn Errors of Metabolism and Screening
repository.name.fl_str_mv Journal of Inborn Errors of Metabolism and Screening - Instituto Genética para Todos (IGPT)
repository.mail.fl_str_mv jiems@jiems-journal.org||rgiugliani@hcpa.edu.br
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