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MeSH Review

Carbohydrate-Deficient Glycoprotein Syndrome

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Disease relevance of Carbohydrate-Deficient Glycoprotein Syndrome


High impact information on Carbohydrate-Deficient Glycoprotein Syndrome


Chemical compound and disease context of Carbohydrate-Deficient Glycoprotein Syndrome


Biological context of Carbohydrate-Deficient Glycoprotein Syndrome


Anatomical context of Carbohydrate-Deficient Glycoprotein Syndrome


Gene context of Carbohydrate-Deficient Glycoprotein Syndrome


Analytical, diagnostic and therapeutic context of Carbohydrate-Deficient Glycoprotein Syndrome


  1. Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome. Babovic-Vuksanovic, D., Patterson, M.C., Schwenk, W.F., O'Brien, J.F., Vockley, J., Freeze, H.H., Mehta, D.P., Michels, V.V. J. Pediatr. (1999) [Pubmed]
  2. Budd-Chiari syndrome associated with coagulation abnormalities in a child with carbohydrate deficient glycoprotein syndrome type Ix. Huemer, M., Huber, W.D., Schima, W., Moeslinger, D., Holzbach, U., Wevers, R., Wank, H., Stoeckler-Ipsiroglu, S. J. Pediatr. (2000) [Pubmed]
  3. Early manifestations of the carbohydrate-deficient glycoprotein syndrome. Petersen, M.B., Brostrøm, K., Stibler, H., Skovby, F. J. Pediatr. (1993) [Pubmed]
  4. Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli. Kjaergaard, S., Skovby, F., Schwartz, M. Eur. J. Hum. Genet. (1999) [Pubmed]
  5. Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I. Pavone, L., Fiumara, A., Barone, R., Rizzo, R., Buttitta, P., Dobyns, W.B., Jaeken, J. J. Neurol. (1996) [Pubmed]
  6. Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie. Imbach, T., Schenk, B., Schollen, E., Burda, P., Stutz, A., Grunewald, S., Bailie, N.M., King, M.D., Jaeken, J., Matthijs, G., Berger, E.G., Aebi, M., Hennet, T. J. Clin. Invest. (2000) [Pubmed]
  7. Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy. Niehues, R., Hasilik, M., Alton, G., Körner, 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. J. Clin. Invest. (1998) [Pubmed]
  8. Carbohydrate-deficient glycoprotein syndrome: not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis? Powell, L.D., Paneerselvam, K., Vij, R., Diaz, S., Manzi, A., Buist, N., Freeze, H., Varki, A. J. Clin. Invest. (1994) [Pubmed]
  9. Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase. Körner, C., Knauer, R., Stephani, U., Marquardt, T., Lehle, L., von Figura, K. EMBO J. (1999) [Pubmed]
  10. A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide. Burda, P., Borsig, L., de Rijk-van Andel, J., Wevers, R., Jaeken, J., Carchon, H., Berger, E.G., Aebi, M. J. Clin. Invest. (1998) [Pubmed]
  11. A new type of carbohydrate-deficient glycoprotein syndrome due to a decreased import of GDP-fucose into the golgi. Lübke, T., Marquardt, T., von Figura, K., Körner, C. J. Biol. Chem. (1999) [Pubmed]
  12. Thyroid function tests and characterization of thyroxine-binding globulin in the carbohydrate-deficient glycoprotein syndrome type I. Macchia, P.E., Harrison, H.H., Scherberg, N.H., Sunthornthepfvarakul, T., Jaeken, J., Refetoff, S. J. Clin. Endocrinol. Metab. (1995) [Pubmed]
  13. Major defect of carbohydrate-deficient-glycoprotein syndrome is not found in the synthesis of dolichyl phosphate or N-acetylglucosaminyl-pyrophosphoryl-dolichol. Yasugi, E., Nakasuji, M., Dohi, T., Oshima, M. Biochem. Biophys. Res. Commun. (1994) [Pubmed]
  14. Mannose supplementation in carbohydrate-deficient glycoprotein syndrome type I and phosphomannomutase deficiency. Mayatepek, E., Kohlmüller, D. Eur. J. Pediatr. (1998) [Pubmed]
  15. Endocrinology of the carbohydrate-deficient glycoprotein syndrome type 1 from birth through adolescence. de Zegher, F., Jaeken, J. Pediatr. Res. (1995) [Pubmed]
  16. Evidence for genetic heterogeneity in the carbohydrate-deficient glycoprotein syndrome type I (CDG1). Matthijs, G., Legius, E., Schollen, E., Vandenberk, P., Jaeken, J., Barone, R., Fiumara, A., Visser, G., Lambert, M., Cassiman, J.J. Genomics (1996) [Pubmed]
  17. Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1. Kondo, I., Mizugishi, K., Yoneda, Y., Hashimoto, T., Kuwajima, K., Yuasa, I., Shigemoto, K., Kuroda, Y. Clin. Genet. (1999) [Pubmed]
  18. Decreased blood coagulation activities in carbohydrate-deficient glycoprotein syndrome. Okamoto, N., Wada, Y., Kobayashi, M., Otani, K., Tagawa, T., Futagi, Y., Imayoshi, Y., Hayashi, A., Shimizu, A., Kato, Y. J. Inherit. Metab. Dis. (1993) [Pubmed]
  19. Effect of exogenous decorin on cell morphology and attachment of decorin-deficient fibroblasts. Gu, J., Wada, Y. J. Biochem. (1996) [Pubmed]
  20. A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic. Imbach, T., Burda, P., Kuhnert, P., Wevers, R.A., Aebi, M., Berger, E.G., Hennet, T. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  21. Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development. Tan, J., Dunn, J., Jaeken, J., Schachter, H. Am. J. Hum. Genet. (1996) [Pubmed]
  22. Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes. Pirard, M., Achouri, Y., Collet, J.F., Schollen, E., Matthijs, G., Van Schaftingen, E. Biochem. J. (1999) [Pubmed]
  23. Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene. Schollen, E., Pardon, E., Heykants, L., Renard, J., Doggett, N.A., Callen, D.F., Cassiman, J.J., Matthijs, G. Hum. Mol. Genet. (1998) [Pubmed]
  24. Cloning and characterization of human phosphomannomutase, a mammalian homologue of yeast SEC53. Hansen, S.H., Frank, S.R., Casanova, J.E. Glycobiology (1997) [Pubmed]
  25. Diagnostic value of Western blotting in carbohydrate-deficient glycoprotein syndrome. Seta, N., Barnier, A., Hochedez, F., Besnard, M.A., Durand, G. Clin. Chim. Acta (1996) [Pubmed]
  26. The identification of abnormal glycoforms of serum transferrin in carbohydrate deficient glycoprotein syndrome type I by capillary zone electrophoresis. Iourin, O., Mattu, T.S., Mian, N., Keir, G., Winchester, B., Dwek, R.A., Rudd, P.M. Glycoconj. J. (1996) [Pubmed]
  27. Anion-exchange chromatography versus isoelectric focusing of transferrin in diagnosing the carbohydrate-deficient glycoprotein syndrome. Vreken, P., Rusch, H., Huijben, K., Wevers, R.A. J. Inherit. Metab. Dis. (1998) [Pubmed]
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