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MUCOPOLYSACCHARIDOSIS WITH SPECIAL REFERENCE TO SCHEIE SYNDROME
Author(s) -
Horiuchi Ryuya,
Ishikawa Hidekazu,
Ishii Yoko,
Watanabe Yuko,
Noguchi Tetsuro,
Suzuki Shigeoki
Publication year - 1976
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/j.1346-8138.1976.tb01839.x
Subject(s) - mucopolysaccharidosis , medicine , pathology
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 85 SO 4 ‐labeled intracellular GAG. In addition, the pathogenesis of mucopolysaccharidoses in connection with cellular GAG metabolism is discussed.