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Use este identificador para citar ou linkar para este item: https://repositorio.ufba.br/handle/ri/6164
Tipo: Artigo de Periódico
Título: Clinical and biochemical studies in mucopolysaccharidosis type II carriers
Título(s) alternativo(s): Journal of Inherited Metabolic Disease
Autor(es): 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.
Autor(es): 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.
Abstract: The 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.
Editora / Evento / Instituição: Springer Verlag
URI: http://www.repositorio.ufba.br/ri/handle/ri/6164
Data do documento: 2009
Aparece nas coleções:Artigo Publicado em Periódico (Faculdade de Medicina)

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