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Publicaties Lysosomale stapelingsziekten

129 resultaten

Newborn screening for hunter disease: a small-scale feasibility study.

Ruijter GJ, Goudriaan DA, Boer AM, Van den Bosch J, Van der Ploeg AT, Elvers LH, Weinreich SS, Reuser AJ

JIMD reports, 2014

doi: 10.1007/8904_2013_279

Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease).

de Ruijter J, Broere L, Mulder MF, van der Ploeg AT, Rubio-Gozalbo ME, Wortmann SB, Visser G, Wijburg FA

Journal of inherited metabolic disease, 2014 May

doi: 10.1007/s10545-013-9658-3

Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.

Oussoren E, Keulemans J, van Diggelen OP, Oemardien LF, Timmermans RG, van der Ploeg AT, Ruijter GJ

Molecular genetics and metabolism, 2013 Aug

doi: S1096-7192(13)00182-0

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.

Brands MM, Hoogeveen-Westerveld M, Kroos MA, Nobel W, Ruijter GJ, Özkan L, Plug I, Grinberg D, Vilageliu L, Halley DJ, van der Ploeg AT, Reuser AJ

Orphanet journal of rare diseases, 2013 Apr 04

doi: 10.1186/1750-1172-8-51

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

Molecular genetics and metabolism, 2013 May

doi: S1096-7192(13)00071-1

Enzymatic and molecular strategies to diagnose Pompe disease.

Reuser A, Verheijen F, Kroos M, Okumiya T, Van Diggelen O, Van der Ploeg A, Halley D

Expert opinion on medical diagnostics, 2010 Jan

doi: 10.1517/17530050903460300

Treatment options for lysosomal storage disorders: developing insights.

van Gelder CM, Vollebregt AA, Plug I, van der Ploeg AT, Reuser AJ

Expert opinion on pharmacotherapy, 2012 Nov

doi: 10.1517/14656566.2012.729039

Mucopolysaccharidosis: cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI.

Brands MM, Frohn-Mulder IM, Hagemans ML, Hop WC, Oussoren E, Helbing WA, van der Ploeg AT

Journal of inherited metabolic disease, 2013 Mar

doi: 10.1007/s10545-011-9444-z

Bone, joint and tooth development in mucopolysaccharidoses: relevance to therapeutic options.

Oussoren E, Brands MM, Ruijter GJ, der Ploeg AT, Reuser AJ

Biochimica et biophysica acta, 2011 Nov

doi: 10.1016/j.bbadis.2011.07.013

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.

Valstar MJ, Neijs S, Bruggenwirth HT, Olmer R, Ruijter GJ, Wevers RA, van Diggelen OP, Poorthuis BJ, Halley DJ, Wijburg FA

Annals of neurology, 2010 Dec

doi: 10.1002/ana.22092

Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots.

Oemardien LF, Boer AM, Ruijter GJ, van der Ploeg AT, de Klerk JB, Reuser AJ, Verheijen FW

Molecular genetics and metabolism, 2011 Jan

doi: 10.1016/j.ymgme.2010.09.008

Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey.

Burton BK, Guffon N, Roberts J, van der Ploeg AT, Jones SA,

Molecular genetics and metabolism

doi: 10.1016/j.ymgme.2010.06.011