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Quoted phrase not found in phrase index: "Congenital disorder of glycosylation with defective fucosylation 1"
Page 1
A case with congenital disorder of glycosylation with defective fucosylation 2 and new mutation in FUK gene.
Özgün N, Şahin Y. Özgün N, et al. Brain Dev. 2022 Mar;44(3):239-243. doi: 10.1016/j.braindev.2021.11.001. Epub 2021 Nov 18. Brain Dev. 2022. PMID: 34802815
INTRODUCTION: Congenital disorders of glycosylation (CDG) is a group of rare, hereditary, multisystem disorders, predominantly affecting nervous system. ...Until today, type 1 and type 2 fucosylation defects were identified, …
INTRODUCTION: Congenital disorders of glycosylation (CDG) is a group of rare, hereditary, multisystem disorde
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
Abu Bakar N, Ashikov A, Brum JM, Smeets R, Kersten M, Huijben K, Keng WT, Speck-Martins CE, de Carvalho DR, de Rizzo IMPO, de Mello WD, Heiner-Fokkema R, Gorman K, Grunewald S, Michelakakis H, Moraitou M, Martinelli D, van Scherpenzeel M, Janssen M, de Boer L, van den Heuvel LP, Thiel C, Lefeber DJ. Abu Bakar N, et al. J Inherit Metab Dis. 2022 Jul;45(4):769-781. doi: 10.1002/jimd.12496. Epub 2022 Mar 28. J Inherit Metab Dis. 2022. PMID: 35279850 Free PMC article.
Congenital disorders of glycosylation type 1 (CDG-I) comprise a group of 27 genetic defects with heterogeneous multisystem phenotype, mostly presenting with nonspecific neurological symptoms. ...We designed single-molecule molecular inver
Congenital disorders of glycosylation type 1 (CDG-I) comprise a group of 27 genetic defects with h
Serum N-glycomics of a novel CDG-IIb patient reveals aberrant IgG glycosylation.
Beimdiek J, Hennig R, Burock R, Puk O, Biskup S, Rapp E, Lesinski-Schiedat A, Buettner FFR, Das AM. Beimdiek J, et al. Glycobiology. 2022 Apr 21;32(5):380-390. doi: 10.1093/glycob/cwac003. Glycobiology. 2022. PMID: 35137040
Rare genetic mutations of the mannosyl-oligosaccharide glucosidase (MOGS) gene affecting the function of the mannosyl-oligosaccharide glucosidase (glucosidase I) are the cause of the congenital disorder of glycosylation IIb (CDG-IIb). Glucosidase I spe …
Rare genetic mutations of the mannosyl-oligosaccharide glucosidase (MOGS) gene affecting the function of the mannosyl-oligosaccharide glucos …
Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II.
Guillard M, Morava E, van Delft FL, Hague R, Körner C, Adamowicz M, Wevers RA, Lefeber DJ. Guillard M, et al. Clin Chem. 2011 Apr;57(4):593-602. doi: 10.1373/clinchem.2010.153635. Epub 2011 Jan 27. Clin Chem. 2011. PMID: 21273509
BACKGROUND: Determination of the genetic defect in patients with a congenital disorder of glycosylation (CDG) is challenging because of the wide clinical presentation, the large number of gene products involved, and the occurrence of secondary c …
BACKGROUND: Determination of the genetic defect in patients with a congenital disorder of glycosylation ( …
Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats.
Hess D, Keusch JJ, Oberstein SA, Hennekam RC, Hofsteenge J. Hess D, et al. J Biol Chem. 2008 Mar 21;283(12):7354-60. doi: 10.1074/jbc.M710251200. Epub 2008 Jan 16. J Biol Chem. 2008. PMID: 18199743 Free article.
Peters Plus syndrome is an autosomal recessive disorder characterized by anterior eye chamber defects, disproportionate short stature, developmental delay, and cleft lip and/or palate. ...These data firmly establish Peters Plus syndrome as a new congenital
Peters Plus syndrome is an autosomal recessive disorder characterized by anterior eye chamber defects, disproportionate short …