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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: gungor d. 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.
Pain in adult patients with Pompe disease: a cross-sectional survey.
Güngör D, Schober AK, Kruijshaar ME, Plug I, Karabul N, Deschauer M, van Doorn PA, van der Ploeg AT, Schoser B, Hanisch F. Güngör D, et al. Mol Genet Metab. 2013 Aug;109(4):371-6. doi: 10.1016/j.ymgme.2013.05.021. Epub 2013 Jun 7. Mol Genet Metab. 2013. PMID: 23849261
Enzyme replacement therapy and fatigue in adults with Pompe disease.
Güngör D, de Vries JM, Brusse E, Kruijshaar ME, Hop WC, Murawska M, van den Berg LE, Reuser AJ, van Doorn PA, Hagemans ML, Plug I, van der Ploeg AT. Güngör D, et al. Mol Genet Metab. 2013 Jun;109(2):174-8. doi: 10.1016/j.ymgme.2013.03.016. Epub 2013 Apr 3. Mol Genet Metab. 2013. PMID: 23603069 Free article.
How to describe the clinical spectrum in Pompe disease?
Güngör D, Reuser AJ. Güngör D, et al. Am J Med Genet A. 2013 Feb;161A(2):399-400. doi: 10.1002/ajmg.a.35662. Epub 2013 Jan 8. Am J Med Genet A. 2013. PMID: 23300052 No abstract available.
A conceptual disease model for adult Pompe disease.
Kanters TA, Redekop WK, Rutten-Van Mölken MP, Kruijshaar ME, Güngör D, van der Ploeg AT, Hakkaart L. Kanters TA, et al. Among authors: gungor d. Orphanet J Rare Dis. 2015 Sep 15;10:112. doi: 10.1186/s13023-015-0334-6. Orphanet J Rare Dis. 2015. PMID: 26374742 Free PMC article.
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: gungor d. 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
84 results