[通过确认芳基硫酸酯酶缺乏症对马罗-拉米综合征进行早期诊断]
[The early diagnosis of Maroteaux-Lamy syndrome with confirmation of arylsulphatase deficiency].
作者信息
Van Biervliet J P, Van Leeuwen E F, Abeling N G, De Jonge H F, Liem K O, Wadman S K
出版信息
Arch Fr Pediatr. 1977 Apr;34(4):362-70.
PMID:142458
Abstract
The absence of aryl sulphatase B (Maroteaux-Lamy syndrome) has been confirmed in a five month old child. The estimation of urine mucopolysaccharides and enzyme studies on cultured fibroblasts were performed at an early stage.
摘要
一名五个月大的儿童已被证实缺乏芳基硫酸酯酶B（马罗托-拉米综合征）。早期进行了尿黏多糖的测定以及对培养的成纤维细胞的酶学研究。
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