A useful routine for biochemical detection and diagnosis of mucopolysaccharidoses

Detalhes bibliográficos
Autor(a) principal: Leistner,Sandra
Data de Publicação: 1998
Outros Autores: Giugliani,Roberto
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Genetics and Molecular Biology
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000100028
Resumo: Mucopolysaccharidoses (MPS) constitute, owing to their biochemical, genetical and clinical characteristics, a large and heterogeneous subgroup among the lysosomal storage diseases (LSD). They are caused by deficiency of specific enzymes, which are responsible for glycosaminoglycan (GAG) breakdown during different steps of its degradation pathway. MPS are responsible for about 32% of inborn errors of metabolism (IEM) and 54% of LSD identified in our laboratory (Regional Laboratory of Inborn Errors of Metabolism (RLIEM), Medical Genetics Unit, Hospital de Clínicas in Porto Alegre), which is a reference center for LSD diagnosis in Brazil. Therefore, we decided to set up a specific laboratory routine for detection and differential diagnosis of MPS in patients with clinical features suggestive of this group of disorders
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spelling A useful routine for biochemical detection and diagnosis of mucopolysaccharidosesMucopolysaccharidoses (MPS) constitute, owing to their biochemical, genetical and clinical characteristics, a large and heterogeneous subgroup among the lysosomal storage diseases (LSD). They are caused by deficiency of specific enzymes, which are responsible for glycosaminoglycan (GAG) breakdown during different steps of its degradation pathway. MPS are responsible for about 32% of inborn errors of metabolism (IEM) and 54% of LSD identified in our laboratory (Regional Laboratory of Inborn Errors of Metabolism (RLIEM), Medical Genetics Unit, Hospital de Clínicas in Porto Alegre), which is a reference center for LSD diagnosis in Brazil. Therefore, we decided to set up a specific laboratory routine for detection and differential diagnosis of MPS in patients with clinical features suggestive of this group of disordersSociedade Brasileira de Genética1998-03-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000100028Genetics and Molecular Biology v.21 n.1 1998reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S1415-47571998000100028info:eu-repo/semantics/openAccessLeistner,SandraGiugliani,Robertoeng1999-01-06T00:00:00Zoai:scielo:S1415-47571998000100028Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:1999-01-06T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false
dc.title.none.fl_str_mv A useful routine for biochemical detection and diagnosis of mucopolysaccharidoses
title A useful routine for biochemical detection and diagnosis of mucopolysaccharidoses
spellingShingle A useful routine for biochemical detection and diagnosis of mucopolysaccharidoses
Leistner,Sandra
title_short A useful routine for biochemical detection and diagnosis of mucopolysaccharidoses
title_full A useful routine for biochemical detection and diagnosis of mucopolysaccharidoses
title_fullStr A useful routine for biochemical detection and diagnosis of mucopolysaccharidoses
title_full_unstemmed A useful routine for biochemical detection and diagnosis of mucopolysaccharidoses
title_sort A useful routine for biochemical detection and diagnosis of mucopolysaccharidoses
author Leistner,Sandra
author_facet Leistner,Sandra
Giugliani,Roberto
author_role author
author2 Giugliani,Roberto
author2_role author
dc.contributor.author.fl_str_mv Leistner,Sandra
Giugliani,Roberto
description Mucopolysaccharidoses (MPS) constitute, owing to their biochemical, genetical and clinical characteristics, a large and heterogeneous subgroup among the lysosomal storage diseases (LSD). They are caused by deficiency of specific enzymes, which are responsible for glycosaminoglycan (GAG) breakdown during different steps of its degradation pathway. MPS are responsible for about 32% of inborn errors of metabolism (IEM) and 54% of LSD identified in our laboratory (Regional Laboratory of Inborn Errors of Metabolism (RLIEM), Medical Genetics Unit, Hospital de Clínicas in Porto Alegre), which is a reference center for LSD diagnosis in Brazil. Therefore, we decided to set up a specific laboratory routine for detection and differential diagnosis of MPS in patients with clinical features suggestive of this group of disorders
publishDate 1998
dc.date.none.fl_str_mv 1998-03-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
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status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000100028
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000100028
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1415-47571998000100028
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 Sociedade Brasileira de Genética
publisher.none.fl_str_mv Sociedade Brasileira de Genética
dc.source.none.fl_str_mv Genetics and Molecular Biology v.21 n.1 1998
reponame:Genetics and Molecular Biology
instname:Sociedade Brasileira de Genética (SBG)
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instname_str Sociedade Brasileira de Genética (SBG)
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institution SBG
reponame_str Genetics and Molecular Biology
collection Genetics and Molecular Biology
repository.name.fl_str_mv Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)
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