{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:54:46Z","timestamp":1761958486074,"version":"build-2065373602"},"reference-count":52,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2009,10,10]],"date-time":"2009-10-10T00:00:00Z","timestamp":1255132800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100001260","name":"National Organization for Rare Disorders","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001260","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2009,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>The aim of the study was to characterize clinically and biochemically mucopolysaccharidosis type II (MPS II) heterozygotes. Fifty\u2010two women at risk to be a carrier, with a mean age of 34.1 years (range 16\u201357 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 <jats:italic>IDS<\/jats:italic> 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\u2010carriers. 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\u2010carriers; there was, however, an overlap between carriers\u2019 and non\u2010carriers\u2019 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.<\/jats:p>","DOI":"10.1007\/s10545-009-1275-9","type":"journal-article","created":{"date-parts":[[2009,10,10]],"date-time":"2009-10-10T10:36:39Z","timestamp":1255170999000},"page":"732-738","source":"Crossref","is-referenced-by-count":13,"title":["Clinical and biochemical studies in mucopolysaccharidosis type II carriers"],"prefix":"10.1002","volume":"32","author":[{"given":"I. V. D.","family":"Schwartz","sequence":"first","affiliation":[{"name":"Department of Genetics UFRGS Porto Alegre Brazil"},{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre Rua Ramiro Barcelos, 2350 Porto Alegre RS 90035\u2013903 Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. L. 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