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Page 1
Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity.
Hagemeijer MC, Oussoren E, Ruijter GJG, Onkenhout W, Huidekoper HH, Ebberink MS, Waterham HR, Ferdinandusse S, de Vries MC, Huigen MCDG, Kluijtmans LAJ, Coene KLM, Blom HJ. Hagemeijer MC, et al. Among authors: oussoren e. JIMD Rep. 2021 May 7;61(1):12-18. doi: 10.1002/jmd2.12223. eCollection 2021 Sep. JIMD Rep. 2021. PMID: 34485012 Free PMC 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: oussoren e. 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
Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.
Hagen J, te Brinke H, Wanders RJ, Knegt AC, Oussoren E, Hoogeboom AJ, Ruijter GJ, Becker D, Schwab KO, Franke I, Duran M, Waterham HR, Sass JO, Houten SM. Hagen J, et al. Among authors: oussoren e. J Inherit Metab Dis. 2015 Sep;38(5):873-9. doi: 10.1007/s10545-015-9841-9. Epub 2015 Apr 10. J Inherit Metab Dis. 2015. PMID: 25860818
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. Among authors: oussoren e. 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. 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.
Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients.
Deden AC, van Slegtenhorst MA, Ruijter GJG, Schoonderwoerd GC, Huidekoper HH, Oussoren E, Brooks AS, Demirdas S. Deden AC, et al. Among authors: oussoren e. Clin Chim Acta. 2018 Sep;484:231. doi: 10.1016/j.cca.2018.06.003. Epub 2018 Jun 2. Clin Chim Acta. 2018. PMID: 29870682 No abstract available.
44 results