Carbohydrate-deficient glycoprotein syndrome

Hackler R, Arndt T, Peters V, Assmann B, Hoffmann GF, Steinmetz A (1998) Automated isoelectric focusing of serum isotransferrins for laboratory diagnosis of carbohydrate deficient glycoprotein syndrome using the PhastSystem . Scand J Clin Lab Invest 58 66-67... 

Iourin O, Mattu TS, Mian N, Keir G, Winchester B, Dwek RA, Rudd PM (1996) The identification of abnormal glycoforms of serum transferrin in carbohydrate deficient glycoprotein syndrome type I by capillary zone electrophoresis. Glycoconj J 13 1031-1042... 

Jaeken J, Schachter H, Carchon, H, De Cock P, Coddeville B, Spik G (1994) Carbohydrate deficient glycoprotein syndrome type II a deficiency in Golgi localised N-acetyl-glucosami-nyltransferase II. Arch Dis Child 71 123-127... 

Jaeken J, Stibler H, Hagberg (1991) The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement. Acta Paedi-atr Scand Suppl 375 1-71... 

Liibke T, Marquardt T, von Figura K, Korner C (1999) A new type of carbohydrate-deficient glycoprotein syndrome due to a decreased import of GDP-fucose into the Golgi. J Biol Chem 274 25986-25989... 

Niehues R, Hasilik M, Alton G, Korner C, Schiebe-Sukumar M, Koch HG, Zimmer KP, Wu R, Harms E, Reiter K, von Figura K, Freeze HH, Harms HK, Marquardt T (1998) Carbohydrate-deficient glycoprotein syndrome type lb. Phosphomannose isomerase deficiency and mannose therapy. J Clin Invest 101 1414-1420... 

Schaftingen E van, Jaeken J (1995) Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett 377 318-320... 

Stibler H, Skovby F (1994) Failure to diagnose carbohydrate-deficient glycoprotein syndrome prenatally. Pediatr Neurol 11 71... 

Schachter, H. and Jaeken, J. (1999) Carbohydrate-deficient glycoprotein syndrome type II. Biochim. Biophys. Acta 1455(2-3), 179-192. 

Several sugar-nucleotide pool defects have been identified Type I carbohydrate-deficient glycoprotein syndrome (CDGs type I), a defect in phosphomannomu-tase, one of the enzymes responsible for converting glucose to GDP-mannose, results in an absence of... 

H. Henry, F. Froehlich, R. Perret, J.D. Tissot, B. Eilers-MesserU, D. Lavanchy, C. Dionisi-Vici, J. J. Gonvers and C. Bachmann, Microheterogeneity of serum glycoproteins in patients with chronic alcohol abuse compared with carbohydrate-deficient glycoprotein syndrome type I, Clin. Chem., 45, 1408-1413 (1999). 

R.P. Oda, R. Prasad, R.L. Stout, D. Coffin, W.P. Patton, D.L. Kraft, J.F. O Brien and J.P. Landers, Capillary electrophoresis-based separation of transferrin sialoforms in patients with carbohydrate-deficient glycoprotein syndrome, Electrophoresis, 18, 1819-1826 (1997). 

K. Yamashita, T. Ohkura, H. Ideo, K. Ohno and M. Kanai, Electrospray ionization-mass spectrometric analysis of serum transferrin isoforms in patients with carbohydrate-deficient glycoprotein syndrome, J. Biochem. (Tokyo), 114, 766-769 (1993). 

H. Henty and collaborators also showed alterations of the glycosylation of transferrin in patients with chronic alcohol abuse, producing the carbohydrate-deficient transferrin isoforms (Henry et al, 1999). These alterations were veiy similar to those present in patients with carbohydrate-deficient glycoprotein syndrome type 1 (CDGl) (Henty et al, 1997 Heyne... 

Henry, H., Tissot, J.D., Messerli, B., Markert, M., Muntau, A., Skladal, D., Sperl, W., Jaeken, J., Weidinger, S., Heyne, K., and Bachmann, C., 1997, Microheterogeneity of serum glycoproteins and their liver precursors in patients with carbohydrate-deficient glycoprotein syndrome type 1 Apparent deficiencies in clusterin and serum amyloid P. J. Lab. Clin. Med. 129 412-421. 

Congenital Disorders of Glycosylation Congenital disorders of glycosyla-tion (CDG) (previously known as carbohydrate-deficient glycoprotein syndromes) are inherited... 

Oda, R.P. et al.. Capillary electrophoresis-based separation of transferrin sialoforms in patients with carbohydrate-deficient glycoprotein syndrome. Electrophoresis, 18,1819,1997. 

Keir, G, Winchester, B.G, and Clayton, R, Carbohydrate-deficient glycoprotein syndromes inborn errors of protein glycosylation, Ann. Clin. Biochem., 36, 20, 1999. 

Carchon H, Van Schaftingen E, Matthijs G, Jaeken J. Carbohydrate-deficient glycoprotein syndrome type lA (phosphomannomutase deficiency). Biochim Biophys Acta 1999 1455 155-165. 

Niehues R. Hasilik M, Alton G, et al. Carbohydrate-deficient glycoprotein syndrome type Ib Phosphomannose isomerase deficiency and mannose therapy. / Clin Invest 1998 101 1414-1420. 

Jaeken J, Matthijs G, Saudubray JM, et al. Phosphomannose isomerase deficiency A carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. Am J Hum Genet 1998 62 1535-1539. 

Burda P, Borsig L, de Rijk - van Andel J, et al. A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide. / Clin Invest 1998 102 647-652. 

Korner C, Knauer R, Stephani U, et al. Carbohydrate deficient glycoprotein syndrome type IV deficiency of dolichyl-P-Man Man5GlcNAc2-PP-dolichyl mannosyl-transferase. EMBO J 1999 18 6816-6822. 

Wada, Y Nishikawa, A. Okamoto, N. Inui, K. Tsukamoto, H. Okada, S. Taniguchi, N. Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome. Biochem. Biophys. Res. Commun. 1992, 189(2), 832-836. 

Niehues, R. Hasilik, M. Alton, G. Korner, C. Schiebe-Sukumar, M. Koch, H.G. Zimmer, K.P. Wu, R. Harms, E. Reiter, K. Von Figura, K. Freeze, H.H. Harms, H.K. Marquardt, T. Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy. / Clin. Invest. 1998, lOl, 1414-1420. 

Jaeken, J. Matthijs, G. Saudubray, J.M. Dionisivici, C. Bertini, E. Delonlay, P. Henri, H. Carchon, H. Schollen, E. Vanschaftingen, E. Phosphomannose isomerase deficiency—A carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. Am. J. Hum. Genet 1998, 62, 1535-1539. 

Krasnewich, D. Gahl, W.A. Carbohydrate-deficient glycoprotein syndrome. Adv. Pediatr. 1997, 44, 109-140. 

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