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Quoted phrase not found in phrase index: "Congenital disorder of glycosylation with defective fucosylation 1"
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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 …
Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.
Ng BG, Rosenfeld JA, Emrick L, Jain M, Burrage LC, Lee B; Undiagnosed Diseases Network; Craigen WJ, Bearden DR, Graham BH, Freeze HH. Ng BG, et al. Am J Hum Genet. 2018 Dec 6;103(6):1030-1037. doi: 10.1016/j.ajhg.2018.10.021. Epub 2018 Nov 29. Am J Hum Genet. 2018. PMID: 30503518 Free PMC article.
Skin fibroblasts from the first individual confirmed the variants as loss of function and showed significant decreases in total GDP-[(3)H] fucose and [(3)H] fucose-1-phosphate. There was also a decrease in the incorporation of [5,6-(3)H]-fucose into fucosylated glyc …
Skin fibroblasts from the first individual confirmed the variants as loss of function and showed significant decreases in total GDP-[(3)H] f …
Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency.
Lübke T, Marquardt T, Etzioni A, Hartmann E, von Figura K, Körner C. Lübke T, et al. Nat Genet. 2001 May;28(1):73-6. doi: 10.1038/ng0501-73. Nat Genet. 2001. PMID: 11326280
Congenital disorders of glycosylation (CDG) comprise a rapidly growing group of inherited disorders in which glycosylation of glycoproteins is defective due to mutations in genes required for the assembly of lipid-linked oligosacch …
Congenital disorders of glycosylation (CDG) comprise a rapidly growing group of inherited disorders in wh …