Carbohydrate-deficient glycoprotein syndrome type II - PubMed (original) (raw)
Case Reports
Carbohydrate-deficient glycoprotein syndrome type II
J Jaeken et al. J Inherit Metab Dis. 1993.
No abstract available
Similar articles
- The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement.
Jaeken J, Stibler H, Hagberg B. Jaeken J, et al. Acta Paediatr Scand Suppl. 1991;375:1-71. Acta Paediatr Scand Suppl. 1991. PMID: 1720595 Review. No abstract available. - The carbohydrate deficient glycoprotein syndrome in three Japanese children.
Ohno K, Yuasa I, Akaboshi S, Itoh M, Yoshida K, Ehara H, Ochiai Y, Takeshita K. Ohno K, et al. Brain Dev. 1992 Jan;14(1):30-5. doi: 10.1016/s0387-7604(12)80276-2. Brain Dev. 1992. PMID: 1590525 - The carbohydrate-deficient glycoprotein syndrome: an experiment of nature in glycosylation.
Winchester B, Clayton P, Mian N, di-Tomaso E, Dell A, Reason A, Keir G. Winchester B, et al. Biochem Soc Trans. 1995 Feb;23(1):185-8. doi: 10.1042/bst0230185. Biochem Soc Trans. 1995. PMID: 7758727 Review. No abstract available. - Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.
Jaeken J, Schachter H, Carchon H, De Cock P, Coddeville B, Spik G. Jaeken J, et al. Arch Dis Child. 1994 Aug;71(2):123-7. doi: 10.1136/adc.71.2.123. Arch Dis Child. 1994. PMID: 7944531 Free PMC article. - Full-field electroretinograms in patients with the carbohydrate-deficient glycoprotein syndrome.
Andréasson S, Blennow G, Ehinger B, Strömland K. Andréasson S, et al. Am J Ophthalmol. 1991 Jul 15;112(1):83-6. doi: 10.1016/s0002-9394(14)76218-x. Am J Ophthalmol. 1991. PMID: 1715674
Cited by
- _N_-acetylglucosaminyltransferase II Is Involved in Plant Growth and Development Under Stress Conditions.
Yoo JY, Ko KS, Vu BN, Lee YE, Yoon SH, Pham TT, Kim JY, Lim JM, Kang YJ, Hong JC, Lee KO. Yoo JY, et al. Front Plant Sci. 2021 Nov 2;12:761064. doi: 10.3389/fpls.2021.761064. eCollection 2021. Front Plant Sci. 2021. PMID: 34804097 Free PMC article. - Immunological aspects of congenital disorders of glycosylation (CDG): a review.
Monticelli M, Ferro T, Jaeken J, Dos Reis Ferreira V, Videira PA. Monticelli M, et al. J Inherit Metab Dis. 2016 Nov;39(6):765-780. doi: 10.1007/s10545-016-9954-9. Epub 2016 Jul 8. J Inherit Metab Dis. 2016. PMID: 27393411 Review. - Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder.
Spaapen LJ, Bakker JA, van der Meer SB, Sijstermans HJ, Steet RA, Wevers RA, Jaeken J. Spaapen LJ, et al. J Inherit Metab Dis. 2005;28(5):707-14. doi: 10.1007/s10545-005-0015-z. J Inherit Metab Dis. 2005. PMID: 16151902 - Abnormal lysosomal inclusions in liver hepatocytes but not in fibroblasts in congenital disorders of glycosylation (CDG).
Grünewald S, De Vos R, Jaeken J. Grünewald S, et al. J Inherit Metab Dis. 2003;26(1):49-54. doi: 10.1023/a:1024023429680. J Inherit Metab Dis. 2003. PMID: 12872840 - 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.
References
- Acta Paediatr Scand Suppl. 1991;375:1-71 - PubMed
- J Inherit Metab Dis. 1991;14(3):385-8 - PubMed
- Neuropediatrics. 1993 Feb;24(1):51-2 - PubMed
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical