Please use this identifier to cite or link to this item:
Type: Artigo
Title: Clinical and biochemical studies in mucopolysaccharidosis type II carriers
Author: Schwartz, I. V. D.
Pinto, L. L. C.
Breda, G.
Lima, L.
Ribeiro, M. G.
Mota, J. G.
Acosta, A. X.
Correia, P.
Horovitz, D. D. G.
Porciuncula, C. G. G.
Lipinski-Figueiredo, E.
Fett-Conte, A. C.
Sobrinho, R. P. Oliveira
Norato, D. Y. J.
Paula, A. C.
Kim, C. A.
Duarte, A. R.
Boy, R.
Leistner-Segal, S.
Burin, M. G.
Giugliani, R.
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 non-carriers; 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
Subject: Distrofia
Mucopolissacaridose I
Country: Alemanha
Editor: Wiley
Rights: Fechado
Identifier DOI: 10.1007/s10545-009-1275-9
Date Issue: 2009
Appears in Collections:FCM - Artigos e Outros Documentos

Files in This Item:
File Description SizeFormat 
000273572600008.pdf196.72 kBAdobe PDFView/Open

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.