Seminars in Pediatric Neurology
Volume 12, Issue 3 , Pages 159-162 , September 2005

Methods for Detection of Carbohydrate-Deficient Glycoprotein Syndromes

  • John F. O’Brien, PhD, DABCC

      Affiliations

    • Corresponding Author InformationAddress reprint requests to John F. O’Brien, Department of Laboratory Medicine and Pathology, Division of Genetics, Mayo Clinic College of Medicine, Room 330, Hilton Building, 200 First St. SW, Rochester, MN. USA 55905-0001.

References 

  1. Jaeken J , Eggermont E , Stibler H . An apparent homozygous X-linked disorder with carbohydrate-deficient serum glycoproteins . (letter) Lancet . 1987;2:1398
  2. Stibler H , Borg S , Allgulander C . Clinical significance of abnormal heterogeneity of transferrin in relation to alcohol consumption . Acta Med Scand . 1979;206:275–281
  3. Anton RF , Lieber C , Tabakoff B . Carbohydrate-deficient transferrin and gamma-glutamyltranferase for the detection and monitoring of alcohol use (Results from a multisite study) . Alcohol Clin Exp Res . 2002;28:1215–1222
  4. Bean P , Peter J . Allelic d variants of transferrin in evaluation of alcohol abuse (Differential diagnosis by isoelectric focusing-immunoblotting-laser densitometry) . Clin Chem . 1994;40:2078–2083
  5. Lacey JM , Bergen HR , Magera MJ , et al.   Rapid determination of transferrin isoforms by immunoaffinity liquid chromatography and electrospray mass spectrometry . Clin Chem . 2001;47:513–518
  6. Foo Y , Rosalki SB . Carbohydrate deficient transferrin measurement . Ann Clin Biochem . 1998;35:345–350
  7. Landberg E , Pahlsson P , Lundblad A , et al.   Carbohydrate composition of serum transferrin isoforms from patients with high alcohol consumption . Biochem Biophys Res Commun . 1995;210:267–274
  8. Sagi D , Kienz P , Denecke J , et al.   Glycoproteomics of N-glycosylation by in-gel deglycosylation and matrix-assisted laser desorption/ionisation-time of flight mass spectrometry mapping (Application to congenital disorders of glycosylation) . Proteomics . 2005;5:2689–2701
  9. Jaeken J , Carchon H . Congenital disorders of glycosylation (A booming chapter of pediatrics) . (review) Curr Opin Pediatr . 2004;16:434–439
  10. Denecke J , Kranz C , von Kleist-Retzow JCH , et al.   Congenital disorder of glycosylation type Id (Clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins) . Pediatr Res . 2005;58:248–253
  11. Hahn SH , Minnich SJ , O’Brien JF . Stabilization of hypoglycosylation in a patient with congenital disorders of glycosylation . J Inherit Metab Dis . 2006;29:1–3
  12. Martin-Rendon E , Blake DJ . Protein glycosylation in disease (New insights into the congenital muscular dystrophies) . (review) Trends Pharmacol Sci . 2003;24:178–183
  13. Wopereis S , Morava E , Grunewald S , et al.   A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement (The biochemical characteristics) . Biochim Biophys Acta . 2005;1741:156–164

PII: S1071-9091(05)00078-1

doi: 10.1016/j.spen.2005.11.002

Seminars in Pediatric Neurology
Volume 12, Issue 3 , Pages 159-162 , September 2005

Article Tools

* Image Usage & Resolution