Journal article
Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl
Abstract
A female child of healthy, unrelated parents presented at 12 months of age with a history of moderately severe developmental delay, macrocephaly, dysmorphic facies, hypotonia, hepatosplenomegaly, mild generalized dysostosis multiplex, mucopolysacchariduria (dermatan and heparan sulfates), and Alder-Reilly bodies in peripheral blood leukocytes. Iduronate sulfatase activity in plasma was markedly depressed: 0.11 units/ml/h (normal, 1.75 +/- 0.56, …
Authors
Clarke JTR; Willard HF; Teshima I; Chang PL; Skomorowski MA
Journal
Clinical Genetics, Vol. 37, No. 5, pp. 355–362
Publisher
Wiley
Publication Date
May 1990
DOI
10.1111/j.1399-0004.1990.tb03519.x
ISSN
0009-9163