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Items: 26

1.

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.

Mol Genet Metab. 2013 Jun;109(2):174-8. doi: 10.1016/j.ymgme.2013.03.016. Epub 2013 Apr 3.

PMID:
23603069
2.

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 J Rare Dis. 2013 Mar 27;8:49. doi: 10.1186/1750-1172-8-49.

3.

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

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

Neuromuscul Disord. 2013 Mar;23(3):256-64. doi: 10.1016/j.nmd.2012.10.024. Epub 2012 Dec 28.

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 J Rare Dis. 2012 Nov 12;7:88. doi: 10.1186/1750-1172-7-88.

5.

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.

Mol Genet Metab. 2012 Nov;107(3):448-55. doi: 10.1016/j.ymgme.2012.09.017. Epub 2012 Sep 21.

6.

Public support for neonatal screening for Pompe disease, a broad-phenotype condition.

Weinreich SS, Rigter T, van El CG, Dondorp WJ, Kostense PJ, van der Ploeg AT, Reuser AJ, Cornel MC, Hagemans ML.

Orphanet J Rare Dis. 2012 Mar 14;7:15. doi: 10.1186/1750-1172-7-15.

7.

Mucopolysaccharidosis: cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI.

Brands MM, Frohn-Mulder IM, Hagemans ML, Hop WC, Oussoren E, Helbing WA, van der Ploeg AT.

J Inherit Metab Dis. 2013 Mar;36(2):227-34. doi: 10.1007/s10545-011-9444-z. Epub 2012 Jan 26.

8.

The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients.

van Capelle CI, van der Beek NA, de Vries JM, van Doorn PA, Duivenvoorden HJ, Leshner RT, Hagemans ML, van der Ploeg AT.

J Inherit Metab Dis. 2012 Mar;35(2):317-23. doi: 10.1007/s10545-011-9388-3. Epub 2011 Sep 13.

9.

Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy.

Güngör D, de Vries JM, Hop WC, Reuser AJ, van Doorn PA, van der Ploeg AT, Hagemans ML.

Orphanet J Rare Dis. 2011 Jun 1;6:34. doi: 10.1186/1750-1172-6-34.

10.

Burden of illness of Pompe disease in patients only receiving supportive care.

Kanters TA, Hagemans ML, van der Beek NA, Rutten FF, van der Ploeg AT, Hakkaart L.

J Inherit Metab Dis. 2011 Oct;34(5):1045-52. doi: 10.1007/s10545-011-9320-x. Epub 2011 Apr 16.

11.

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.

Neuromuscul Disord. 2010 Dec;20(12):775-82. doi: 10.1016/j.nmd.2010.07.277.

PMID:
20817528
12.

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.

Cell Mol Life Sci. 2010 Mar;67(5):701-13. doi: 10.1007/s00018-009-0184-2. Review.

13.

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.

J Inherit Metab Dis. 2010 Apr;33(2):133-9. doi: 10.1007/s10545-009-9027-4. Epub 2010 Jan 27.

14.

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.

Neuromuscul Disord. 2009 Feb;19(2):113-7. doi: 10.1016/j.nmd.2008.11.007. Epub 2008 Dec 11.

PMID:
19084399
15.

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.

Neuromuscul Disord. 2008 Jun;18(6):447-52. doi: 10.1016/j.nmd.2008.04.009. Epub 2008 May 27.

PMID:
18508267
16.

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.

Neuromuscul Disord. 2007 Jul;17(7):537-43. Epub 2007 May 1.

PMID:
17475490
17.

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.

J Neurol. 2007 Jul;254(7):941-5. Epub 2007 Mar 2.

18.

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 9;68(2):110-5.

PMID:
17210890
19.

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 Neurol Belg. 2006 Jun;106(2):82-6. Review.

PMID:
16898258
20.

Course of disability and respiratory function in untreated late-onset Pompe disease.

Hagemans ML, Hop WJ, Van Doorn PA, Reuser AJ, Van der Ploeg AT.

Neurology. 2006 Feb 28;66(4):581-3.

PMID:
16505317
21.

The natural course of non-classic Pompe's disease; a review of 225 published cases.

Winkel LP, Hagemans ML, van Doorn PA, Loonen MC, Hop WJ, Reuser AJ, van der Ploeg AT.

J Neurol. 2005 Aug;252(8):875-84. Review.

PMID:
16133732
22.

Disease severity in children and adults with Pompe disease related to age and disease duration.

Hagemans ML, Winkel LP, Hop WC, Reuser AJ, Van Doorn PA, Van der Ploeg AT.

Neurology. 2005 Jun 28;64(12):2139-41.

PMID:
15985590
23.

Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients.

Hagemans ML, Winkel LP, Van Doorn PA, Hop WJ, Loonen MC, Reuser AJ, Van der Ploeg AT.

Brain. 2005 Mar;128(Pt 3):671-7. Epub 2005 Jan 19.

PMID:
15659425
24.

Late-onset Pompe disease primarily affects quality of life in physical health domains.

Hagemans ML, Janssens AC, Winkel LP, Sieradzan KA, Reuser AJ, Van Doorn PA, Van der Ploeg AT.

Neurology. 2004 Nov 9;63(9):1688-92.

PMID:
15534256
25.

Indicators for the total duration of premenopausal endogenous estrogen exposure in relation to BMD.

Hagemans ML, van der Schouw YT, de Kleijn MJ, van Staveren WA, Pop VJ, Leusink GL, Grobbee DE.

Hum Reprod. 2004 Sep;19(9):2163-9. Epub 2004 Jun 30.

PMID:
15229200
26.

Cross-reactivity among the pollen proteins of birch and apple trees.

Berrens L, van Dijk AG, Houben GF, Hagemans ML, Koers WJ.

Allerg Immunol (Leipz). 1990;36(3):147-56.

PMID:
2256458

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