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Page 1
Mucolipidosis type III, a series of adult patients.
Oussoren E, van Eerd D, Murphy E, Lachmann R, van der Meijden JC, Hoefsloot LH, Verdijk R, Ruijter GJG, Maas M, Hollak CEM, Langendonk JG, van der Ploeg AT, Langeveld M. Oussoren E, et al. Among authors: van der ploeg at, van der meijden jc, van eerd d. J Inherit Metab Dis. 2018 Sep;41(5):839-848. doi: 10.1007/s10545-018-0186-z. Epub 2018 Apr 27. J Inherit Metab Dis. 2018. PMID: 29704188 Free PMC article.
PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease.
Hagemans ML, Stigter RL, van Capelle CI, van der Beek NA, Winkel LP, van Vliet L, Hop WC, Reuser AJ, Beishuizen A, van der Ploeg AT. Hagemans ML, et al. Among authors: van der ploeg at, van capelle ci, van der beek na, van vliet l. J Inherit Metab Dis. 2010 Apr;33(2):133-9. doi: 10.1007/s10545-009-9027-4. Epub 2010 Jan 27. J Inherit Metab Dis. 2010. PMID: 20107902 Free PMC article. Clinical Trial.
Hearing loss in Pompe disease revisited: results from a study of 24 children.
van Capelle CI, Goedegebure A, Homans NC, Hoeve HL, Reuser AJ, van der Ploeg AT. van Capelle CI, et al. Among authors: van der ploeg at. J Inherit Metab Dis. 2010 Oct;33(5):597-602. doi: 10.1007/s10545-010-9144-0. Epub 2010 Jul 2. J Inherit Metab Dis. 2010. PMID: 20596893 Free PMC article.
Burden of illness of Pompe disease in patients only receiving supportive care.
Kanters TA, Hagemans ML, van der Beek NA, Rutten FF, van der Ploeg AT, Hakkaart L. Kanters TA, et al. Among authors: van der ploeg at, van der beek na. J Inherit Metab Dis. 2011 Oct;34(5):1045-52. doi: 10.1007/s10545-011-9320-x. Epub 2011 Apr 16. J Inherit Metab Dis. 2011. PMID: 21499718 Free PMC article.
The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients.
van Capelle CI, van der Beek NA, de Vries JM, van Doorn PA, Duivenvoorden HJ, Leshner RT, Hagemans ML, van der Ploeg AT. van Capelle CI, et al. Among authors: van der ploeg at, van der beek na, van doorn pa. J Inherit Metab Dis. 2012 Mar;35(2):317-23. doi: 10.1007/s10545-011-9388-3. Epub 2011 Sep 13. J Inherit Metab Dis. 2012. PMID: 21912959 Free PMC article.
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
Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO study.
Jahja R, Huijbregts SC, de Sonneville LM, van der Meere JJ, Bosch AM, Hollak CE, Rubio-Gozalbo ME, Brouwers MC, Hofstede FC, de Vries MC, Janssen MC, van der Ploeg AT, Langendonk JG, van Spronsen FJ. Jahja R, et al. Among authors: van der ploeg at, van spronsen fj, van der meere jj. Mol Genet Metab. 2013;110 Suppl:S57-61. doi: 10.1016/j.ymgme.2013.10.011. Epub 2013 Oct 22. Mol Genet Metab. 2013. PMID: 24183792
250 results