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Quoted phrase not found in phrase index: "CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION"
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. There are N- and O- types of glycosylation. Fucosylation, a form of N-glyco …
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 inversion pr …
Congenital disorders of glycosylation type 1 (CDG-I) comprise a group of 27 genetic defects with heteroge …
Screening for abnormal glycosylation in a cohort of adult liver disease patients.
Jansen JC, van Hoek B, Metselaar HJ, van den Berg AP, Zijlstra F, Huijben K, van Scherpenzeel M, Drenth JPH, Lefeber DJ. Jansen JC, et al. J Inherit Metab Dis. 2020 Nov;43(6):1310-1320. doi: 10.1002/jimd.12273. Epub 2020 Jul 17. J Inherit Metab Dis. 2020. PMID: 32557671 Free PMC article.
Congenital disorders of glycosylation (CDG) are a rapidly expanding group of rare genetic defects in glycosylation. ...Our aim was to identify glycosylation patterns that could help to differentiate between primary and secondary …
Congenital disorders of glycosylation (CDG) are a rapidly expanding group of rare genetic defects in g …
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.
No functional tests have been performed to date on the presumed glycosylation defect in Peters Plus syndrome. We have established a sensitive immunopurification-mass spectrometry method, using multiple reaction monitoring, to analyze Omicron-fucosyl glycans. …
No functional tests have been performed to date on the presumed glycosylation defect in Peters Plus syndrome. We have establis …
A novel mutation in leukocyte adhesion deficiency type II/CDGIIc.
Cagdas D, Yilmaz M, Kandemir N, Tezcan I, Etzioni A, Sanal Ö. Cagdas D, et al. J Clin Immunol. 2014 Nov;34(8):1009-14. doi: 10.1007/s10875-014-0091-7. Epub 2014 Sep 21. J Clin Immunol. 2014. PMID: 25239688
In LAD type II, the rolling phase of the leukocyte adhesion cascade is affected due to mutations in the specific fucose transporter GFTP (GDP fucose transporter), causing defect in the biosynthesis of selectin ligands on leukocytes. Thus this syndrome is also called con …
In LAD type II, the rolling phase of the leukocyte adhesion cascade is affected due to mutations in the specific fucose transporter GFTP (GD …