Related Experiment Videos
Mucopolysaccharidosis with special reference to Scheie syndrome
R Horiuchi1, H Ishikawa, Y Ishii
1Department of Dermatology, Gunma University, School of Medicine, Showa-Cho 3-39-15, Maebashi, Japan.
The Journal of Dermatology
|August 1, 1976
Abstract:
Three patients with Scheie syndrome are reported on. They were suspected to be suffering from mucopolysaccharidosis because of clinical, histological and electron microscopic observations. The Scheie syndrome diagnosis was based on urinary GAG analysis. Chase experiments with cultured fibroblasts from one of the patients showed retarded degradation of 35SO4-labeled intracellular GAG. In addition, the pathogenesis of mucopolysaccharidoses in connection with cellular GAG metabolism is discussed.