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Publicaties Ziekte van Pompe

195 resultaten

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

Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study.

de Vries JM, van der Beek NA, Hop WC, Karstens FP, Wokke JH, de Visser M, van Engelen BG, Kuks JB, van der Kooi AJ, Notermans NC, Faber CG, Verschuuren JJ, Kruijshaar ME, Reuser AJ, van Doorn PA, van der Ploeg AT

Orphanet journal of rare diseases, 2012 Sep 26

doi: 10.1186/1750-1172-7-73

Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease.

Wens SC, Kroos MA, de Vries JM, Hoogeveen-Westerveld M, Wijgerde MG, van Doorn PA, van der Ploeg AT, Reuser AJ

Molecular genetics and metabolism, 2012 Nov

doi: S1096-7192(12)00341-1

Physiotherapy management in late-onset Pompe disease: clinical practice in 88 patients.

Favejee MM, Huisstede BM, Bussmann JB, Kruijshaar ME, van der Ploeg AT

Molecular genetics and metabolism, 2012 Sep

doi: S1096-7192(12)00270-3

Rapid ultraperformance liquid chromatography-tandem mass spectrometry assay for a characteristic glycogen-derived tetrasaccharide in Pompe disease and other glycogen storage diseases.

Sluiter W, van den Bosch JC, Goudriaan DA, van Gelder CM, de Vries JM, Huijmans JG, Reuser AJ, van der Ploeg AT, Ruijter GJ

Clinical chemistry, 2012 Jul

doi: 10.1373/clinchem.2011.178319

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

Ebbink BJ, Aarsen FK, van Gelder CM, van den Hout JM, Weisglas-Kuperus N, Jaeken J, Lequin MH, Arts WF, van der Ploeg AT

Neurology, 2012 May 08

doi: 10.1212/WNL.0b013e3182553c11