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Publicaties Ziekte van Pompe

224 resultaten

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

Pompe's disease.

van der Ploeg AT, Reuser AJ

Lancet (London, England), 2008 Oct 11

doi: 10.1016/S0140-6736(08)61555-X

Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T>G genotype rarely reveals abnormalities.

van der Beek NA, Soliman OI, van Capelle CI, Geleijnse ML, Vletter WB, Kroos MA, Reuser AJ, Frohn-Mulder IM, van Doorn PA, van der Ploeg AT

Journal of the neurological sciences, 2008 Dec 15

doi: 10.1016/j.jns.2008.07.013

Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease.

van Capelle CI, Winkel LP, Hagemans ML, Shapira SK, Arts WF, van Doorn PA, Hop WC, Reuser AJ, van der Ploeg AT

Neuromuscular disorders : NMD, 2008 Jun

doi: 10.1016/j.nmd.2008.04.009

Cardiac involvement in adults with Pompe disease.

Soliman OI, van der Beek NA, van Doorn PA, Vletter WB, Nemes A, Van Dalen BM, ten Cate FJ, van der Ploeg AT, Geleijnse ML

Journal of internal medicine, 2008 Oct

doi: 10.1111/j.1365-2796.2008.01966.x

p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?

Kroos MA, Mullaart RA, Van Vliet L, Pomponio RJ, Amartino H, Kolodny EH, Pastores GM, Wevers RA, Van der Ploeg AT, Halley DJ, Reuser AJ

European journal of human genetics : EJHG, 2008 Aug

doi: 10.1038/ejhg.2008.34

Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease.

Drost MR, Schaart G, van Dijk P, van Capelle CI, van der Vusse GJ, Delhaas T, van der Ploeg AT, Reuser AJ

Muscle & nerve, 2008 Feb

NCBI: 17894362

Impact of late-onset Pompe disease on participation in daily life activities: evaluation of the Rotterdam Handicap Scale.

Hagemans ML, Laforêt P, Hop WJ, Merkies IS, Van Doorn PA, Reuser AJ, Van der Ploeg AT

Neuromuscular disorders : NMD, 2007 Jul

NCBI: 17475490