一种新发现的遗传综合征中缺乏唾液酸的血清和脑脊液转铁蛋白
Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome.
作者信息
Jaeken J, van Eijk H G, van der Heul C, Corbeel L, Eeckels R, Eggermont E
出版信息
Clin Chim Acta. 1984 Dec 29;144(2-3):245-7. doi: 10.1016/0009-8981(84)90059-7.
PMID:6543331
Abstract
Identical twin-sisters with evidence of a demyelinating disease showed multiple serum glycoprotein abnormalities. The association of a low serum iron level and a normal blood haemoglobin suggested an abnormality of transferrin too. This was confirmed by finding a sialic acid-deficiency of this glycoprotein in serum as well as in cerebrospinal fluid.
摘要
患有脱髓鞘疾病的同卵双胞胎姐妹出现了多种血清糖蛋白异常。血清铁水平低而血红蛋白正常，这表明转铁蛋白也存在异常。血清和脑脊液中该糖蛋白的唾液酸缺乏证实了这一点。
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