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. 1984 Dec 29;144(2-3):245-7.
doi: 10.1016/0009-8981(84)90059-7.

Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome

J Jaeken, H G van Eijk, C van der Heul, L Corbeel, R Eeckels, E Eggermont

Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome

J Jaeken et al. Clin Chim Acta. .

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.

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