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Publicaties Ziekte van Pompe

224 resultaten

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

Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy.

Spiridigliozzi GA, Heller JH, Kishnani PS, Van der Ploeg AT, Ebbink BJ, Aarsen FK, van Gelder CM, Van den Hout JM

Neurology, 2013 Mar 19

doi: 10.1212/WNL.0b013e31828b8af0

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

The Rasch-built Pompe-specific activity (R-PAct) scale.

van der Beek NA, Hagemans ML, van der Ploeg AT, van Doorn PA, Merkies IS

Neuromuscular disorders : NMD, 2013 Mar

doi: S0960-8966(12)00669-4

Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study.

van der Beek NA, de Vries JM, Hagemans ML, Hop WC, Kroos MA, Wokke JH, de Visser M, van Engelen BG, Kuks JB, van der Kooi AJ, Notermans NC, Faber KG, Verschuuren JJ, Reuser AJ, van der Ploeg AT, van Doorn PA

Orphanet journal of rare diseases, 2012 Nov 12

doi: 10.1186/1750-1172-7-88

Muscle fiber-type distribution, fiber-type-specific damage, and the Pompe disease phenotype.

van den Berg LE, Drost MR, Schaart G, de Laat J, van Doorn PA, van der Ploeg AT, Reuser AJ

Journal of inherited metabolic disease, 2013 Sep

doi: 10.1007/s10545-012-9541-7

Severely impaired health status at diagnosis of Pompe disease: a cross-sectional analysis to explore the potential utility of neonatal screening.

Rigter T, Weinreich SS, van El CG, de Vries JM, van Gelder CM, Güngör D, Reuser AJ, Hagemans ML, Cornel MC, van der Ploeg AT

Molecular genetics and metabolism, 2012 Nov

doi: S1096-7192(12)00358-7

Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa.

van der Ploeg AT, Barohn R, Carlson L, Charrow J, Clemens PR, Hopkin RJ, Kishnani PS, Laforêt P, Morgan C, Nations S, Pestronk A, Plotkin H, Rosenbloom BE, Sims KB, Tsao E

Molecular genetics and metabolism, 2012 Nov

doi: S1096-7192(12)00356-3