一例罕见的甘露糖苷贮积症，白细胞中酸性甘露糖苷酶严重缺乏，皮肤成纤维细胞中酶活性残留较高。
An unusual case of mannosidosis with severe deficiency of acid mannosidase in leukocytes and high residual enzymatic activity in skin fibroblasts.
作者信息
Tsvetkova I V, Rosenfeld E L, Prigozina I G
出版信息
Clin Chim Acta. 1980 Oct 23;107(1-2):37-42. doi: 10.1016/0009-8981(80)90411-8.
PMID:7428176
Abstract
A case of mannosidosis with high residual activity of fibroblast acid mannosidase is described. The mutant enzyme was thermostable and has an almost normal Km value. The patient had mild clinical manifestations, but excretion of mannose-rich oligosaccharides was very high. This case of mannosidosis is compared with those reported in literature.
摘要
本文描述了一例成纤维细胞酸性甘露糖苷酶具有高残余活性的甘露糖苷贮积症病例。该突变酶具有热稳定性，且 Km 值几乎正常。患者临床表现轻微，但富含甘露糖的寡糖排泄量非常高。将该例甘露糖苷贮积症与文献报道的病例进行了比较。
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