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Publicaties Ziekte van Pompe

195 resultaten

Comparison of EQ-5D and SF-6D utilities in Pompe disease.

Kanters TA, Redekop WK, Kruijshaar ME, van der Ploeg AT, Rutten-van Mölken MP, Hakkaart L

Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation, 2015 Apr

doi: 10.1007/s11136-014-0833-2

Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.

Bergsma AJ, Kroos M, Hoogeveen-Westerveld M, Halley D, van der Ploeg AT, Pijnappel WW

Human mutation, 2015 Jan

doi: 10.1002/humu.22705

Newborn screening for pompe disease? a qualitative study exploring professional views.

van El CG, Rigter T, Reuser AJ, van der Ploeg AT, Weinreich SS, Cornel MC

BMC pediatrics, 2014 Aug 14

doi: 10.1186/1471-2431-14-203

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

Journal of inherited metabolic disease, 2015 May

doi: 10.1007/s10545-014-9751-2

Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in classic-infantile patients with Pompe disease.

Kanters TA, Hoogenboom-Plug I, Rutten-Van Mölken MP, Redekop WK, van der Ploeg AT, Hakkaart L

Orphanet journal of rare diseases, 2014 May 16

doi: 10.1186/1750-1172-9-75

Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease.

van Gelder CM, Hoogeveen-Westerveld M, Kroos MA, Plug I, van der Ploeg AT, Reuser AJ

Journal of inherited metabolic disease, 2015 Mar

doi: 10.1007/s10545-014-9707-6

Increased aortic stiffness and blood pressure in non-classic Pompe disease.

Wens SC, Kuperus E, Mattace-Raso FU, Kruijshaar ME, Brusse E, van Montfort KC, de Boer MS, Sijbrands EJ, van der Ploeg AT, van Doorn PA

Journal of inherited metabolic disease, 2014 May

doi: 10.1007/s10545-013-9667-2

Phenotypical variation within 22 families with Pompe disease.

Wens SC, van Gelder CM, Kruijshaar ME, de Vries JM, van der Beek NA, Reuser AJ, van Doorn PA, van der Ploeg AT, Brusse E

Orphanet journal of rare diseases, 2013 Nov 19

doi: 10.1186/1750-1172-8-182

The impact of informal care for patients with Pompe disease: an application of the CarerQol instrument.

Kanters TA, van der Ploeg AT, Brouwer WB, Hakkaart L

Molecular genetics and metabolism, 2013 Nov

doi: S1096-7192(13)00268-0

Pain in adult patients with Pompe disease: a cross-sectional survey.

Güngör D, Schober AK, Kruijshaar ME, Plug I, Karabul N, Deschauer M, van Doorn PA, van der Ploeg AT, Schoser B, Hanisch F

Molecular genetics and metabolism, 2013 Aug

doi: S1096-7192(13)00187-X

Enzyme replacement therapy and fatigue in adults with Pompe disease.

Güngör D, de Vries JM, Brusse E, Kruijshaar ME, Hop WC, Murawska M, van den Berg LE, Reuser AJ, van Doorn PA, Hagemans ML, Plug I, van der Ploeg AT

Molecular genetics and metabolism, 2013 Jun

doi: S1096-7192(13)00105-4

Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study.

Güngör D, Kruijshaar ME, Plug I, D'Agostino RB, Hagemans ML, van Doorn PA, Reuser AJ, van der Ploeg AT

Orphanet journal of rare diseases, 2013 Mar 27

doi: 10.1186/1750-1172-8-49