Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS - PubMed (original) (raw)

. 1999 Nov;16(11):669-71.

doi: 10.1023/a:1017249723165.

A Helenius, B Schenk, R Barone, A Fiumara, E G Berger, T Hennet, T Imbach, A Stutz, C Bjursell, A Uller, J G Wahlström, P Briones, E Cardo, P Clayton, B Winchester, V Cormier-Dalre, P de Lonlay, M Cuer, T Dupré, N Seta, T de Koning, L Dorland, F de Loos, L Kupers, et al.

• PMID: 11003549
• DOI: 10.1023/a:1017249723165

Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS

M Aebi et al. Glycoconj J. 1999 Nov.

No abstract available

PubMed Disclaimer

Similar articles

• Carbohydrate-deficient glycoprotein syndromes: inborn errors of protein glycosylation.
  Keir G, Winchester BG, Clayton P. Keir G, et al. Ann Clin Biochem. 1999 Jan;36 ( Pt 1):20-36. doi: 10.1177/000456329903600103. Ann Clin Biochem. 1999. PMID: 10370757 Review.
• Congenital disorders of glycosylation (CDG): it's (nearly) all in it!
  Jaeken J. Jaeken J. J Inherit Metab Dis. 2011 Aug;34(4):853-8. doi: 10.1007/s10545-011-9299-3. Epub 2011 Mar 8. J Inherit Metab Dis. 2011. PMID: 21384229 Review.
• On the nomenclature of congenital disorders of glycosylation (CDG).
  Jaeken J, Hennet T, Freeze HH, Matthijs G. Jaeken J, et al. J Inherit Metab Dis. 2008 Dec;31(6):669-72. doi: 10.1007/s10545-008-0983-x. Epub 2008 Oct 24. J Inherit Metab Dis. 2008. PMID: 18949576
• Abnormal surface expression of sialoglycans on B lymphocyte cell lines from patients with carbohydrate deficient glycoprotein syndrome I A (CDGS I A).
  Bergmann M, Gross HJ, Abdelatty F, Möller P, Jaeken J, Schwartz-Albiez R. Bergmann M, et al. Glycobiology. 1998 Oct;8(10):963-72. doi: 10.1093/glycob/8.10.963. Glycobiology. 1998. PMID: 9719677
• Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies.
  Marquardt T, Denecke J. Marquardt T, et al. Eur J Pediatr. 2003 Jun;162(6):359-79. doi: 10.1007/s00431-002-1136-0. Epub 2003 Mar 15. Eur J Pediatr. 2003. PMID: 12756558 Review.

Cited by

• Congenital disorders of glycosylation (CDG): state of the art in 2022.
  Francisco R, Brasil S, Poejo J, Jaeken J, Pascoal C, Videira PA, Dos Reis Ferreira V. Francisco R, et al. Orphanet J Rare Dis. 2023 Oct 19;18(1):329. doi: 10.1186/s13023-023-02879-z. Orphanet J Rare Dis. 2023. PMID: 37858231 Free PMC article. Review.
• A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report.
  Lebredonchel E, Riquet A, Neut D, Broly F, Matthijs G, Klein A, Foulquier F. Lebredonchel E, et al. Ital J Pediatr. 2022 Oct 11;48(1):178. doi: 10.1186/s13052-022-01355-x. Ital J Pediatr. 2022. PMID: 36221102 Free PMC article.
• Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease.
  Vignogna RC, Allocca M, Monticelli M, Norris JW, Steet R, Perlstein EO, Andreotti G, Lang GI. Vignogna RC, et al. Elife. 2022 Oct 10;11:e79346. doi: 10.7554/eLife.79346. Elife. 2022. PMID: 36214454 Free PMC article.
• A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype.
  Nicotera AG, Spoto G, Calì F, Romeo G, Musumeci A, Vinci M, Fiumara A, Barone R, Di Rosa G, Musumeci SA. Nicotera AG, et al. Mol Syndromol. 2021 Aug;12(5):327-332. doi: 10.1159/000516606. Epub 2021 Jul 20. Mol Syndromol. 2021. PMID: 34602961 Free PMC article.
• Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders.
  Zhang Z, Huang TL, Ma J, He WJ, Gu H. Zhang Z, et al. BMC Med Genet. 2019 Nov 14;20(1):181. doi: 10.1186/s12881-019-0902-z. BMC Med Genet. 2019. PMID: 31727010 Free PMC article.

Publication types

MeSH terms

LinkOut - more resources

• Full Text Sources

  • Ovid Technologies, Inc.