Horiuchi R, Ishikawa H, Ishii Y, Watanabe Y, Noguchi T, Suzuki S
Department of Dermatology, Gunma University, School of Medicine, Showa-Cho 3-39-15, Maebashi, Japan.
J Dermatol. 1976 Aug;3(4):171-8. doi: 10.1111/j.1346-8138.1976.tb01839.x.
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.
报告了3例Scheie综合征患者。基于临床、组织学和电子显微镜观察，怀疑他们患有黏多糖贮积症。Scheie综合征的诊断基于尿糖胺聚糖分析。对其中1例患者的培养成纤维细胞进行的追踪实验显示，35S标记的细胞内糖胺聚糖降解延迟。此外，还讨论了与细胞糖胺聚糖代谢相关的黏多糖贮积症的发病机制。
