黏多糖贮积症 I 中 α-L-艾杜糖苷酶活性的白细胞值。
Leucocyte values of alpha-L-iduronidase activity in mucopolysaccharidosis I.
作者信息
Kelly T E, Taylor H A
出版信息
J Med Genet. 1976 Apr;13(2):149-51. doi: 10.1136/jmg.13.2.149.
Abstract
Assay of alpha-L-iduronidase in peripheral leucocytes is a rapid and simple diagnostic aid in mucopolysaccharidosis I. The mean value for heterozygotes is one-half the value of normal controls, but overlap between the two groups occurs. Use of this assay may be helpful in genetic counselling of selected couples.
摘要
检测外周血白细胞中的α-L-艾杜糖醛酸酶是黏多糖贮积症I型快速简便的诊断辅助方法。杂合子的平均值是正常对照组的一半，但两组之间存在重叠。使用该检测方法可能有助于对特定夫妇进行遗传咨询。
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本文引用的文献
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