Journal of Inherited Metabolic Disease

, Volume 14, Issue 3, pp 385–388 | Cite as

A new variant of the carbohydrate deficient glycoproteins syndrome

  • V. T. Ramaekers
  • H. Stibler
  • J. Kint
  • J. Jaeken
Short Communication


Public Health Internal Medicine Carbohydrate Metabolic Disease Carbohydrate Deficient Glycoprotein Syndrome 
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  1. Jaeken, J. and Stibler, H. A newly recognized inherited neurological disease with carbohydrate deficient secretory glycoproteins. In: Wetterberg, L. (ed.),Genetics of Neuropsychiatric Diseases, Wenner-Gren International Symposium Series, Vol. 51, Macmillan Press, London, 1989, pp. 69–80Google Scholar
  2. Jaeken, J., Vanderschueren-Lodewyckx, M., Casaer, al. Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?Pediatr. Res. 14 (1980) 179Google Scholar
  3. Jaeken, J., van Eijk, H. G., van der Heul, C., Corbeel, L., Eeckels, R. and Eggermont, E. Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome.Clin. Chim. Acta 144 (1984) 245–247PubMedGoogle Scholar
  4. Jaeken, J., Eggermont, E. and Stibler, H. An apparent homozygous X-linked disorder with carbohydrate-deficient serum glycoproteins.Lancet 2 (1987) 1398Google Scholar
  5. Jaeken, J., Stibler, H., Kristiansson, B. and Blennow, G. Abstract,Vth International Congress Inborn Errors of Metabolism, Society for Inherited Metabolic Disorders, Pacific Grove, California, 1–5 June 1990Google Scholar
  6. Kristiansson, B., Anderson, M., Tonnby, B. and Hagberg, B. Disialo-transferrin developmental deficiency syndrome.Arch. Dis. Child. 65 (1989) 71–76Google Scholar
  7. Stibler, H. and Jaeken, J. Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome.Arch. Dis. Child. 65 (1990) 107–111PubMedGoogle Scholar
  8. Stibler, H., Borg, S. and Joustra, M. Micro anion exchange chromatography of carbohydrate-deficient transferrin in serum in relation to alcohol consumption.Alcohol. Clin. Exp. Res. 10 (1986) 535–544PubMedGoogle Scholar

Copyright information

© SSIEM and Kluwer Academic Publishers 1991

Authors and Affiliations

  • V. T. Ramaekers
    • 1
  • H. Stibler
    • 2
  • J. Kint
    • 3
  • J. Jaeken
    • 4
  1. 1.Department of NeuropaediatricsTechnical University of AachenAachenFRG
  2. 2.Department of NeurologyKarolinska InstituteStockholmSweden
  3. 3.Department of PaediatricsUniversity of GhentBelgium
  4. 4.Department of PaediatricsUniversity of LeuvenBelgium

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