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Examining the Distribution and Impact of Single-Nucleotide Polymorphisms in the Capsular Locus of Streptococcus pneumoniae Serotype 19A.
Arends DW, Miellet WR, Langereis JD, Ederveen THA, van der Gaast-de Jongh CE, van Scherpenzeel M, Knol MJ, van Sorge NM, Lefeber DJ, Trzciński K, Sanders EAM, Dorfmueller HC, Bootsma HJ, de Jonge MI. Arends DW, et al. Among authors: van scherpenzeel m. Infect Immun. 2021 Oct 15;89(11):e0024621. doi: 10.1128/IAI.00246-21. Epub 2021 Jul 12. Infect Immun. 2021. PMID: 34251291 Free PMC article.
A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.
Iqbal Z, Shahzad M, Vissers LE, van Scherpenzeel M, Gilissen C, Razzaq A, Zahoor MY, Khan SN, Kleefstra T, Veltman JA, de Brouwer AP, Lefeber DJ, van Bokhoven H, Riazuddin S. Iqbal Z, et al. Among authors: van bokhoven h, van scherpenzeel m. Eur J Hum Genet. 2013 Aug;21(8):844-9. doi: 10.1038/ejhg.2012.257. Epub 2012 Dec 19. Eur J Hum Genet. 2013. PMID: 23249953 Free PMC article.
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
Van Scherpenzeel M, Timal S, Rymen D, Hoischen A, Wuhrer M, Hipgrave-Ederveen A, Grunewald S, Peanne R, Saada A, Edvardson S, Grønborg S, Ruijter G, Kattentidt-Mouravieva A, Brum JM, Freckmann ML, Tomkins S, Jalan A, Prochazkova D, Ondruskova N, Hansikova H, Willemsen MA, Hensbergen PJ, Matthijs G, Wevers RA, Veltman JA, Morava E, Lefeber DJ. Van Scherpenzeel M, et al. Brain. 2014 Apr;137(Pt 4):1030-8. doi: 10.1093/brain/awu019. Epub 2014 Feb 24. Brain. 2014. PMID: 24566669
A common sugar-nucleotide-mediated mechanism of inhibition of (glycosamino)glycan biosynthesis, as evidenced by 6F-GalNAc (Ac3).
van Wijk XM, Lawrence R, Thijssen VL, van den Broek SA, Troost R, van Scherpenzeel M, Naidu N, Oosterhof A, Griffioen AW, Lefeber DJ, van Delft FL, van Kuppevelt TH. van Wijk XM, et al. Among authors: van kuppevelt th, van den broek sa, van delft fl, van scherpenzeel m. FASEB J. 2015 Jul;29(7):2993-3002. doi: 10.1096/fj.14-264226. Epub 2015 Apr 13. FASEB J. 2015. PMID: 25868729 Free PMC article.
Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect.
de la Morena-Barrio ME, Martínez-Martínez I, de Cos C, Wypasek E, Roldán V, Undas A, van Scherpenzeel M, Lefeber DJ, Toderici M, Sevivas T, España F, Jaeken J, Corral J, Vicente V. de la Morena-Barrio ME, et al. Among authors: van scherpenzeel m. J Thromb Haemost. 2016 Aug;14(8):1549-60. doi: 10.1111/jth.13372. Epub 2016 Jun 29. J Thromb Haemost. 2016. PMID: 27214821 Free article.
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