两名表现出不同表型的姐妹缺乏α-岩藻糖苷酶活性。
Absence of alpha-fucosidase activity in two sisters showing a different phenotype.
作者信息
Christomanou H, Beyer D
出版信息
Eur J Pediatr. 1983 Mar;140(1):27-9. doi: 10.1007/BF00661900.
PMID:6873107
Abstract
Two Austrian sisters with a different phenotype of fucosidosis are presented. The diagnosis was established by demonstrating complete alpha-L-fucosidase deficiency in the patients' liver as well as an increased excretion of oligosaccharides in the urine and an absence of alpha-L-fucosidase activity in skin fibroblasts of one patient. No correlation between enzyme activity and the different expression of the disease was found.
摘要
本文介绍了两名患有不同表型岩藻糖苷贮积症的奥地利姐妹。通过检测发现，两名患者肝脏中完全缺乏α-L-岩藻糖苷酶，其中一名患者尿液中寡糖排泄增加，皮肤成纤维细胞中缺乏α-L-岩藻糖苷酶活性，据此确诊。未发现酶活性与疾病不同表现之间存在相关性。
Zotero 插件