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195 results

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

Fatigue: an important feature of late-onset Pompe disease.

Hagemans ML, van Schie SP, Janssens AC, van Doorn PA, Reuser AJ, van der Ploeg AT

Journal of neurology, 2007 Jul

NCBI: 17351726

Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.

Kroos MA, Pomponio RJ, Hagemans ML, Keulemans JL, Phipps M, DeRiso M, Palmer RE, Ausems MG, Van der Beek NA, Van Diggelen OP, Halley DJ, Van der Ploeg AT, Reuser AJ

Neurology, 2007 Jan 09

NCBI: 17210890

Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II.

Okumiya T, Kroos MA, Vliet LV, Takeuchi H, Van der Ploeg AT, Reuser AJ

Molecular genetics and metabolism, 2007 Jan

NCBI: 17095274

Increased aortic stiffness in glycogenosis type 2 (Pompe's disease).

Nemes A, Soliman OI, Geleijnse ML, Anwar AM, van der Beek NA, van Doorn PA, Gavallér H, Csajbók E, ten Cate FJ

International journal of cardiology, 2007 Aug 09

NCBI: 17084921

Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy.

van der Beek NA, Hagemans ML, van der Ploeg AT, Reuser AJ, van Doorn PA

Acta neurologica Belgica, 2006 Jun

NCBI: 16898258