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195 results

A case of adult Pompe disease presenting with severe fatigue and selective involvement of type 1 muscle fibers.

van den Berg LE, de Vries JM, Verdijk RM, van der Ploeg AT, Reuser AJ, van Doorn PA

Neuromuscular disorders : NMD, 2011 Mar

doi: 10.1016/j.nmd.2010.11.016

Where do we stand in enzyme replacement therapy in Pompe's disease?

van der Ploeg AT

Neuromuscular disorders : NMD, 2010 Dec

doi: 10.1016/j.nmd.2010.09.011

High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa.

de Vries JM, van der Beek NA, Kroos MA, Ozkan L, van Doorn PA, Richards SM, Sung CC, Brugma JD, Zandbergen AA, van der Ploeg AT, Reuser AJ

Molecular genetics and metabolism, 2010 Dec

doi: 10.1016/j.ymgme.2010.08.009

Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study.

van Capelle CI, van der Beek NA, Hagemans ML, Arts WF, Hop WC, Lee P, Jaeken J, Frohn-Mulder IM, Merkus PJ, Corzo D, Puga AC, Reuser AJ, van der Ploeg AT

Neuromuscular disorders : NMD, 2010 Dec

doi: 10.1016/j.nmd.2010.07.277

Low bone mass in Pompe disease: muscular strength as a predictor of bone mineral density.

van den Berg LE, Zandbergen AA, van Capelle CI, de Vries JM, Hop WC, van den Hout JM, Reuser AJ, Zillikens MC, van der Ploeg AT

Bone, 2010 Sep

doi: 10.1016/j.bone.2010.06.021

Hearing loss in Pompe disease revisited: results from a study of 24 children.

van Capelle CI, Goedegebure A, Homans NC, Hoeve HL, Reuser AJ, van der Ploeg AT

Journal of inherited metabolic disease, 2010 Oct

doi: 10.1007/s10545-010-9144-0

A randomized study of alglucosidase alfa in late-onset Pompe's disease.

van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, Herson S, Kishnani PS, Laforet P, Lake SL, Lange DJ, Leshner RT, Mayhew JE, Morgan C, Nozaki K, Park DJ, Pestronk A, Rosenbloom B, Skrinar A, van Capelle CI, van der Beek NA, Wasserstein M, Zivkovic SA

The New England journal of medicine, 2010 Apr 15

doi: 10.1056/NEJMoa0909859

Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype.

van Til NP, Stok M, Aerts Kaya FS, de Waard MC, Farahbakhshian E, Visser TP, Kroos MA, Jacobs EH, Willart MA, van der Wegen P, Scholte BJ, Lambrecht BN, Duncker DJ, van der Ploeg AT, Reuser AJ, Verstegen MM, Wagemaker G

Blood, 2010 Jul 01

doi: 10.1182/blood-2009-11-252874

Fatigue in neuromuscular disorders: focus on Guillain-Barré syndrome and Pompe disease.

de Vries JM, Hagemans ML, Bussmann JB, van der Ploeg AT, van Doorn PA

Cellular and molecular life sciences : CMLS, 2010 Mar

doi: 10.1007/s00018-009-0184-2

PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease.

Hagemans ML, Stigter RL, van Capelle CI, van der Beek NA, Winkel LP, van Vliet L, Hop WC, Reuser AJ, Beishuizen A, van der Ploeg AT

Journal of inherited metabolic disease, 2010 Apr

doi: 10.1007/s10545-009-9027-4

Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates.

van Diggelen OP, Oemardien LF, van der Beek NA, Kroos MA, Wind HK, Voznyi YV, Burke D, Jackson M, Winchester BG, Reuser AJ

Journal of inherited metabolic disease, 2009 Jun

doi: 10.1007/s10545-009-1082-3

Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease.

Van der Beek NA, Hagemans ML, Reuser AJ, Hop WC, Van der Ploeg AT, Van Doorn PA, Wokke JH

Neuromuscular disorders : NMD, 2009 Feb

doi: 10.1016/j.nmd.2008.11.007