血浆壳三糖苷酶活性升高相关疾病谱的扩展：最新进展
The expanding spectrum of disorders with elevated plasma chitotriosidase activity: an update.
作者信息
Michelakakis H, Dimitriou E, Labadaridis I
机构信息
Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece.
出版信息
J Inherit Metab Dis. 2004;27(5):705-6. doi: 10.1023/b:boli.0000043025.17721.fc.
Abstract
A striking elevation of plasma chitotriosidase activity, greater than 150 times the normal median value, was found in two galactosialidosis patients. Furthermore, increased plasma chitotriosidase activity, 10-53 times the normal median value, was also observed in fucosidosis, glycogen storage disease type IV, Alagille syndrome and hydrops fetalis due to congenital herpes virus infection.
摘要
在两名半乳糖唾液酸贮积症患者中发现血浆壳三糖苷酶活性显著升高，超过正常中位数的150倍。此外，在岩藻糖苷贮积症、IV型糖原贮积病、阿拉吉列综合征以及先天性疱疹病毒感染所致胎儿水肿中也观察到血浆壳三糖苷酶活性升高，为正常中位数的10 - 53倍。
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