Clinical and biochemical studies in mucopolysaccharidosis type II carriers

Detalhes bibliográficos
Autor(a) principal: Schwartz, Ida Vanessa Doederlein
Data de Publicação: 2009
Outros Autores: Pinto, Louise Lapagesse de Camargo, Breda, G., Lima, L., Ribeiro, Marcia Goncalves, Mota, J. G., Acosta, Angelina Xavier, Correia, P., Horovitz, Dafne Dain Gandelman, Porciuncula, C. G. G.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFBA
Texto Completo: http://www.repositorio.ufba.br/ri/handle/ri/6164
Resumo: Trabalho completo: acesso retrito, p. 732–738
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spelling Schwartz, Ida Vanessa DoederleinPinto, Louise Lapagesse de CamargoBreda, G.Lima, L.Ribeiro, Marcia GoncalvesMota, J. G.Acosta, Angelina XavierCorreia, P.Horovitz, Dafne Dain GandelmanPorciuncula, C. G. G.Schwartz, Ida Vanessa DoederleinPinto, Louise Lapagesse de CamargoBreda, G.Lima, L.Ribeiro, Marcia GoncalvesMota, J. G.Acosta, Angelina XavierCorreia, P.Horovitz, Dafne Dain GandelmanPorciuncula, C. G. G.2012-06-15T19:53:25Z20090141-8955http://www.repositorio.ufba.br/ri/handle/ri/6164v. 32, n. 6Trabalho completo: acesso retrito, p. 732–738The aim of the study was to characterize clinically and biochemically mucopolysaccharidosis type II (MPS II) heterozygotes. Fifty-two women at risk to be a carrier, with a mean age of 34.1 years (range 16–57 years), were evaluated through pedigree analysis, medical history, physical examination, measurement of iduronate sulfatase (IDS) activities in plasma and in leukocytes, quantification of glycosaminoglycans (GAGs) in urine, and analysis of the IDS gene. Eligibility criteria for the study also included being 16 years of age or older and being enrolled in a genetic counselling programme. The pedigree and DNA analyses allowed the identification of 40/52 carriers and 12/52 non-carriers. All women evaluated were clinically healthy, and their levels of urinary GAGs were within normal limits. Median plasma and leukocyte IDS activities found among carriers were significantly lower than the values found for noncarriers; there was, however, an overlap between carriers 'and non-carriers' values. Our data suggests that MPS II carriers show lower plasma and leukocyte IDS activities but that this reduction is generally associated neither with changes in levels of urinary GAGs nor with the occurrence of clinical manifestations.Submitted by Bruna Lessa (lessbruna@gmail.com) on 2012-06-15T19:53:25Z No. of bitstreams: 1 (72)fulltext.pdf: 126036 bytes, checksum: 6ac2ce209602622cd3816d7f5243249e (MD5)Made available in DSpace on 2012-06-15T19:53:25Z (GMT). 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dc.title.pt_BR.fl_str_mv Clinical and biochemical studies in mucopolysaccharidosis type II carriers
dc.title.alternative.pt_BR.fl_str_mv Journal of Inherited Metabolic Disease
title Clinical and biochemical studies in mucopolysaccharidosis type II carriers
spellingShingle Clinical and biochemical studies in mucopolysaccharidosis type II carriers
Schwartz, Ida Vanessa Doederlein
title_short Clinical and biochemical studies in mucopolysaccharidosis type II carriers
title_full Clinical and biochemical studies in mucopolysaccharidosis type II carriers
title_fullStr Clinical and biochemical studies in mucopolysaccharidosis type II carriers
title_full_unstemmed Clinical and biochemical studies in mucopolysaccharidosis type II carriers
title_sort Clinical and biochemical studies in mucopolysaccharidosis type II carriers
author Schwartz, Ida Vanessa Doederlein
author_facet Schwartz, Ida Vanessa Doederlein
Pinto, Louise Lapagesse de Camargo
Breda, G.
Lima, L.
Ribeiro, Marcia Goncalves
Mota, J. G.
Acosta, Angelina Xavier
Correia, P.
Horovitz, Dafne Dain Gandelman
Porciuncula, C. G. G.
author_role author
author2 Pinto, Louise Lapagesse de Camargo
Breda, G.
Lima, L.
Ribeiro, Marcia Goncalves
Mota, J. G.
Acosta, Angelina Xavier
Correia, P.
Horovitz, Dafne Dain Gandelman
Porciuncula, C. G. G.
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Schwartz, Ida Vanessa Doederlein
Pinto, Louise Lapagesse de Camargo
Breda, G.
Lima, L.
Ribeiro, Marcia Goncalves
Mota, J. G.
Acosta, Angelina Xavier
Correia, P.
Horovitz, Dafne Dain Gandelman
Porciuncula, C. G. G.
Schwartz, Ida Vanessa Doederlein
Pinto, Louise Lapagesse de Camargo
Breda, G.
Lima, L.
Ribeiro, Marcia Goncalves
Mota, J. G.
Acosta, Angelina Xavier
Correia, P.
Horovitz, Dafne Dain Gandelman
Porciuncula, C. G. G.
description Trabalho completo: acesso retrito, p. 732–738
publishDate 2009
dc.date.issued.fl_str_mv 2009
dc.date.accessioned.fl_str_mv 2012-06-15T19:53:25Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://www.repositorio.ufba.br/ri/handle/ri/6164
dc.identifier.issn.none.fl_str_mv 0141-8955
dc.identifier.number.pt_BR.fl_str_mv v. 32, n. 6
identifier_str_mv 0141-8955
v. 32, n. 6
url http://www.repositorio.ufba.br/ri/handle/ri/6164
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Springer Verlag
publisher.none.fl_str_mv Springer Verlag
dc.source.pt_BR.fl_str_mv http://www.springerlink.com/content/y2r4366636551u54/fulltext.pdf
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