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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 meijden jc. 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.
Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure.
Oussoren E, Mathijssen IMJ, Wagenmakers M, Verdijk RM, Bredero-Boelhouwer HH, van Veelen-Vincent MC, van der Meijden JC, van den Hout JMP, Ruijter GJG, van der Ploeg AT, Langeveld M. Oussoren E, et al. Among authors: van der meijden jc. J Inherit Metab Dis. 2018 Nov;41(6):1247-1258. doi: 10.1007/s10545-018-0212-1. Epub 2018 Aug 6. J Inherit Metab Dis. 2018. PMID: 30083803 Free PMC article.
The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease.
Kuperus E, van der Meijden JC, In 't Groen SLM, Kroos MA, Hoogeveen-Westerveld M, Rizopoulos D, Martinez MYN, Kruijshaar ME, van Doorn PA, van der Beek NAME, van der Ploeg AT, Pijnappel WWMP. Kuperus E, et al. Among authors: van der meijden jc. PLoS One. 2018 Dec 7;13(12):e0208854. doi: 10.1371/journal.pone.0208854. eCollection 2018. PLoS One. 2018. PMID: 30532252 Free PMC article. Clinical Trial.
Ten years of the international Pompe survey: patient reported outcomes as a reliable tool for studying treated and untreated children and adults with non-classic Pompe disease.
van der Meijden JC, Güngör D, Kruijshaar ME, Muir AD, Broekgaarden HA, van der Ploeg AT. van der Meijden JC, et al. Among authors: van der ploeg at. J Inherit Metab Dis. 2015 May;38(3):495-503. doi: 10.1007/s10545-014-9751-2. Epub 2014 Aug 12. J Inherit Metab Dis. 2015. PMID: 25112389
13 results