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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. PLoS One. 2015 Sep 25;10(9):e0138622. doi: 10.1371/journal.pone.0138622. eCollection 2015. PLoS One. 2015. PMID: 26406883 Free PMC article.
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: ruijter gjg. 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: ruijter gjg. 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.
87 results