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89 results

Limited responsiveness related to the minimal important difference of patient-reported outcomes in rare diseases.

Johnston BC, Miller PA, Agarwal A, Mulla S, Khokhar R, De Oliveira K, Hitchcock CL, Sadeghirad B, Mohiuddin M, Sekercioglu N, Seweryn M, Koperny M, Bala MM, Adams-Webber T, Granados A, Hamed A, Crawford MW, van der Ploeg AT, Guyatt GH

Journal of clinical epidemiology, 2016 11

doi: 10.1016/j.jclinepi.2016.06.010

Severe tracheal and bronchial collapse in adults with type II mucopolysaccharidosis.

Rutten M, Ciet P, van den Biggelaar R, Oussoren E, Langendonk JG, van der Ploeg AT, Langeveld M

Orphanet journal of rare diseases, 2016 Apr 26

doi: 10.1186/s13023-016-0425-z

Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB.

Meijer OLM, Welling L, Valstar MJ, Hoefsloot LH, Brüggenwirth HT, van der Ploeg AT, Ruijter GJG, Wagemans T, Wijburg FA, van Vlies N

Journal of inherited metabolic disease, 2016 05

doi: 10.1007/s10545-016-9916-2

Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome.

Ebbink BJ, Brands MM, van den Hout JM, Lequin MH, Coebergh van den Braak RR, van de Weitgraven RL, Plug I, Aarsen FK, van der Ploeg AT

Journal of inherited metabolic disease, 2016 Mar

doi: 10.1007/s10545-015-9895-8

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

PloS one, 2015

doi: 10.1371/journal.pone.0138622

Hematopoietic cell transplantation for mucopolysaccharidosis patients is safe and effective: results after implementation of international guidelines.

Aldenhoven M, Jones SA, Bonney D, Borrill RE, Coussons M, Mercer J, Bierings MB, Versluys B, van Hasselt PM, Wijburg FA, van der Ploeg AT, Wynn RF, Boelens JJ

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation, 2015 Jun

doi: S1083-8791(15)00118-4

Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III.

Welling L, Marchal JP, van Hasselt P, van der Ploeg AT, Wijburg FA, Boelens JJ

JIMD reports, 2015

doi: 10.1007/8904_2014_350

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

Journal of inherited metabolic disease, 2015 Mar

doi: 10.1007/s10545-014-9737-0

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