Clinical and biochemical studies in mucopolysaccharidosis type II carriers

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… (More)
DOI: 10.1007/s10545-009-1275-9

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