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Rapid ultraperformance liquid chromatography-tandem mass spectrometry assay for a characteristic glycogen-derived tetrasaccharide in Pompe disease and other glycogen storage diseases.
Sluiter W, van den Bosch JC, Goudriaan DA, van Gelder CM, de Vries JM, Huijmans JG, Reuser AJ, van der Ploeg AT, Ruijter GJ. Sluiter W, et al. Among authors: van den bosch jc, van der ploeg at, van gelder cm. Clin Chem. 2012 Jul;58(7):1139-47. doi: 10.1373/clinchem.2011.178319. Epub 2012 May 23. Clin Chem. 2012. PMID: 22623745 Free article.
Up to five years experience with 11 mucopolysaccharidosis type VI patients.
Brands MM, Oussoren E, Ruijter GJ, Vollebregt AA, van den Hout HM, Joosten KF, Hop WC, Plug I, van der Ploeg AT. Brands MM, et al. Among authors: van der ploeg at, van den hout hm. Mol Genet Metab. 2013 May;109(1):70-6. doi: 10.1016/j.ymgme.2013.02.013. Epub 2013 Mar 4. Mol Genet Metab. 2013. PMID: 23523338
Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey.
Brands MM, Güngör D, van den Hout JM, Karstens FP, Oussoren E, Plug I, Boelens JJ, van Hasselt PM, Hollak CE, Mulder MF, Rubio Gozalbo E, Smeitink JA, Smit GP, Wijburg FA, Meutgeert H, van der Ploeg AT. Brands MM, et al. Among authors: van der ploeg at, van hasselt pm, van den hout jm. J Inherit Metab Dis. 2015 Mar;38(2):323-31. doi: 10.1007/s10545-014-9737-0. Epub 2014 Jul 22. J Inherit Metab Dis. 2015. PMID: 25048386
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses.
Langereis EJ, Wagemans T, Kulik W, Lefeber DJ, van Lenthe H, Oussoren E, van der Ploeg AT, Ruijter GJ, Wevers RA, Wijburg FA, van Vlies N. Langereis EJ, et al. Among authors: van der ploeg at, van lenthe h, van vlies n. PLoS One. 2015 Sep 25;10(9):e0138622. doi: 10.1371/journal.pone.0138622. eCollection 2015. PLoS One. 2015. PMID: 26406883 Free PMC article.
243 results