Lysosomal diseases : overview on current diagnosis and treatment

Detalhes bibliográficos
Autor(a) principal: Poswar, Fabiano de Oliveira
Data de Publicação: 2019
Outros Autores: Vairo, Filippo Pinto e, Burin, Maira Graeff, Tirelli, Kristiane Michelin, Facchin, Ana Carolina Brusius, Kubaski, Francyne, Souza, Carolina Fischinger Moura de, Baldo, Guilherme, Giugliani, Roberto
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFRGS
Texto Completo: http://hdl.handle.net/10183/201063
Resumo: Lysosomal diseases (LDs), also known as lysosomal storage diseases (LSDs), are a heterogeneous group of conditions caused by defects in lysosomal function. LDs may result from deficiency of lysosomal hydrolases, membrane-associated transporters or other non-enzymatic proteins. Interest in the LD field is growing each year, as more conditions are, or will soon be treatable. In this article, we review the diagnosis of LDs, from clinical suspicion and screening tests to the identification of enzyme or protein deficiencies and molecular genetic diagnosis. We also cover the treatment approaches that are currently available or in development, including hematopoietic stem cell transplantation, enzyme replacement therapy, small molecules, and gene therapy.
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spelling Poswar, Fabiano de OliveiraVairo, Filippo Pinto eBurin, Maira GraeffTirelli, Kristiane MichelinFacchin, Ana Carolina BrusiusKubaski, FrancyneSouza, Carolina Fischinger Moura deBaldo, GuilhermeGiugliani, Roberto2019-10-26T03:51:19Z20191415-4757http://hdl.handle.net/10183/201063001103974Lysosomal diseases (LDs), also known as lysosomal storage diseases (LSDs), are a heterogeneous group of conditions caused by defects in lysosomal function. LDs may result from deficiency of lysosomal hydrolases, membrane-associated transporters or other non-enzymatic proteins. Interest in the LD field is growing each year, as more conditions are, or will soon be treatable. In this article, we review the diagnosis of LDs, from clinical suspicion and screening tests to the identification of enzyme or protein deficiencies and molecular genetic diagnosis. We also cover the treatment approaches that are currently available or in development, including hematopoietic stem cell transplantation, enzyme replacement therapy, small molecules, and gene therapy.application/pdfengGenetics and molecular biology. Ribeirão Preto. Vol. 42, n. 1, suppl. 1 (2019), p. 165-177Terapia de reposição de enzimasDiagnósticoDoenças por armazenamento dos lisossomosTerapêuticaTriagem neonatalTransplante de células-tronco hematopoéticasNeonatal screeningHematopoietic stem cell transplantationGene therapyLysosomal storage diseasesEnzyme replacement therapyLysosomal diseases : overview on current diagnosis and treatmentinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/otherinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSTEXT001103974.pdf.txt001103974.pdf.txtExtracted Texttext/plain64704http://www.lume.ufrgs.br/bitstream/10183/201063/2/001103974.pdf.txt3d3ff50c23bb26706b804e49eb07914aMD52ORIGINAL001103974.pdfTexto completo (inglês)application/pdf758243http://www.lume.ufrgs.br/bitstream/10183/201063/1/001103974.pdfdce703ae9fa6f9270ecdc9e0cfd04732MD5110183/2010632024-08-07 06:16:10.993794oai:www.lume.ufrgs.br:10183/201063Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2024-08-07T09:16:10Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false
dc.title.pt_BR.fl_str_mv Lysosomal diseases : overview on current diagnosis and treatment
title Lysosomal diseases : overview on current diagnosis and treatment
spellingShingle Lysosomal diseases : overview on current diagnosis and treatment
Poswar, Fabiano de Oliveira
Terapia de reposição de enzimas
Diagnóstico
Doenças por armazenamento dos lisossomos
Terapêutica
Triagem neonatal
Transplante de células-tronco hematopoéticas
Neonatal screening
Hematopoietic stem cell transplantation
Gene therapy
Lysosomal storage diseases
Enzyme replacement therapy
title_short Lysosomal diseases : overview on current diagnosis and treatment
title_full Lysosomal diseases : overview on current diagnosis and treatment
title_fullStr Lysosomal diseases : overview on current diagnosis and treatment
title_full_unstemmed Lysosomal diseases : overview on current diagnosis and treatment
title_sort Lysosomal diseases : overview on current diagnosis and treatment
author Poswar, Fabiano de Oliveira
author_facet Poswar, Fabiano de Oliveira
Vairo, Filippo Pinto e
Burin, Maira Graeff
Tirelli, Kristiane Michelin
Facchin, Ana Carolina Brusius
Kubaski, Francyne
Souza, Carolina Fischinger Moura de
Baldo, Guilherme
Giugliani, Roberto
author_role author
author2 Vairo, Filippo Pinto e
Burin, Maira Graeff
Tirelli, Kristiane Michelin
Facchin, Ana Carolina Brusius
Kubaski, Francyne
Souza, Carolina Fischinger Moura de
Baldo, Guilherme
Giugliani, Roberto
author2_role author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Poswar, Fabiano de Oliveira
Vairo, Filippo Pinto e
Burin, Maira Graeff
Tirelli, Kristiane Michelin
Facchin, Ana Carolina Brusius
Kubaski, Francyne
Souza, Carolina Fischinger Moura de
Baldo, Guilherme
Giugliani, Roberto
dc.subject.por.fl_str_mv Terapia de reposição de enzimas
Diagnóstico
Doenças por armazenamento dos lisossomos
Terapêutica
Triagem neonatal
Transplante de células-tronco hematopoéticas
topic Terapia de reposição de enzimas
Diagnóstico
Doenças por armazenamento dos lisossomos
Terapêutica
Triagem neonatal
Transplante de células-tronco hematopoéticas
Neonatal screening
Hematopoietic stem cell transplantation
Gene therapy
Lysosomal storage diseases
Enzyme replacement therapy
dc.subject.eng.fl_str_mv Neonatal screening
Hematopoietic stem cell transplantation
Gene therapy
Lysosomal storage diseases
Enzyme replacement therapy
description Lysosomal diseases (LDs), also known as lysosomal storage diseases (LSDs), are a heterogeneous group of conditions caused by defects in lysosomal function. LDs may result from deficiency of lysosomal hydrolases, membrane-associated transporters or other non-enzymatic proteins. Interest in the LD field is growing each year, as more conditions are, or will soon be treatable. In this article, we review the diagnosis of LDs, from clinical suspicion and screening tests to the identification of enzyme or protein deficiencies and molecular genetic diagnosis. We also cover the treatment approaches that are currently available or in development, including hematopoietic stem cell transplantation, enzyme replacement therapy, small molecules, and gene therapy.
publishDate 2019
dc.date.accessioned.fl_str_mv 2019-10-26T03:51:19Z
dc.date.issued.fl_str_mv 2019
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dc.language.iso.fl_str_mv eng
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dc.relation.ispartof.pt_BR.fl_str_mv Genetics and molecular biology. Ribeirão Preto. Vol. 42, n. 1, suppl. 1 (2019), p. 165-177
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