Clinical and Biochemical Manifestations of Hyaluronidase Deficiency
Open Access
- 3 October 1996
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 335 (14) , 1029-1033
- https://doi.org/10.1056/nejm199610033351405
Abstract
The mucopolysaccharidoses are lysosomal storage disorders caused by a genetic deficiency of enzymes that catalyze the degradation of glycosaminoglycans (mucopolysaccharides). These disorders are clinically variable and commonly associated with mental retardation, short stature, coarse facial features, organomegaly, and an accumulation of glycosaminoglycans in tissues.Keywords
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