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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 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.
Severely impaired health status at diagnosis of Pompe disease: a cross-sectional analysis to explore the potential utility of neonatal screening.
Rigter T, Weinreich SS, van El CG, de Vries JM, van Gelder CM, Güngör D, Reuser AJ, Hagemans ML, Cornel MC, van der Ploeg AT. Rigter T, et al. Among authors: van gelder cm. Mol Genet Metab. 2012 Nov;107(3):448-55. doi: 10.1016/j.ymgme.2012.09.017. Epub 2012 Sep 21. Mol Genet Metab. 2012. PMID: 23040796 Free article.
Phenotypical variation within 22 families with Pompe disease.
Wens SC, van Gelder CM, Kruijshaar ME, de Vries JM, van der Beek NA, Reuser AJ, van Doorn PA, van der Ploeg AT, Brusse E. Wens SC, et al. Among authors: van gelder cm. Orphanet J Rare Dis. 2013 Nov 19;8:182. doi: 10.1186/1750-1172-8-182. Orphanet J Rare Dis. 2013. PMID: 24245577 Free PMC article.
Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy.
van Gelder CM, van Capelle CI, Ebbink BJ, Moor-van Nugteren I, van den Hout JM, Hakkesteegt MM, van Doorn PA, de Coo IF, Reuser AJ, de Gier HH, van der Ploeg AT. van Gelder CM, et al. Among authors: van der ploeg at, van capelle ci, van doorn pa, van den hout jm. J Inherit Metab Dis. 2012 May;35(3):505-11. doi: 10.1007/s10545-011-9404-7. Epub 2011 Oct 19. J Inherit Metab Dis. 2012. PMID: 22008944 Free PMC article.
Empowerment.
Van Gelder CM. Van Gelder CM. Ann Emerg Med. 2016 Oct;68(4):509-10. doi: 10.1016/j.annemergmed.2016.03.050. Ann Emerg Med. 2016. PMID: 27666350 No abstract available.
23 results