Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome
J Jaeken, HG Van Eijk, C Van der Heul, L Corbeel… - Clinica chimica acta, 1984 - Elsevier
J Jaeken, HG Van Eijk, C Van der Heul, L Corbeel, R Eeckels, E Eggermont
Clinica chimica acta, 1984•ElsevierIdentical 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.
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.
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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