Laura van Vliet, Ing.

Laura van Vliet is Research Technician in the DMD Genetic Therapy Group at the Human Genetics Department (LUMC) since June 2007.

Publication list

Okumiya, T., Kroos, M. A., Van Vliet, L., Takeuchi, H., Van der Ploeg, A. T. and Reuser,A. J. (2007) Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II. Mol Genet Metab, 90: 49-57

Kroos, M.A., Mullaart R.A. Van Vliet, L., Pomponio, R.J., Amartino, H., Kolodny, E.H., Pastores, G.M., Wevers, R.A., Van der Ploeg, A.T., Halley, D.J. and Reuser, A.J. (2008) p[G576S;E689K]: pathogenic combination or polymorphism in Pompe disease? Eur J Hum Genet, Epub Feb 27

Kroos M, Pomponio RJ, van Vliet L, Palmer RE, Phipps M, Van der Helm R, Halley D, Reuser A and the GAA Database Consortium (2008) Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. Hum Mutat, Epub April 18

Aartsma-Rus A, van Vliet L, Hirschi M, Janson, A.A., Heemskerk, J.A. De Winter, C.L. et al. (2008) Guidelines for antisense oligonucleotide design and insight in splice modulating mechanisms. Mol Ther ; epub 23 Sept

Van Vliet L, de Winter CL, van Deutekom JCT....and Aartsma-Rus A (2008) Assessment of the feasibility of exon 45-55 multiexon skipping for Duchenne muscular dystrophy. BMC Med Genet, 9:105

Hagemans ML, Stigter RL, van Capelle CI, van der Beek NA, Winkel LP, van Vliet L, Hop WC, Reuser AJ, Beishuizen A and van der Ploeg AT (2010): PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease. J Inherit Metab Dis, Epub Jan 27.