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Items: 1 to 50 of 65

1.

Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease.

Harlaar L, Hogrel JY, Perniconi B, Kruijshaar ME, Rizopoulos D, Taouagh N, Canal A, Brusse E, van Doorn PA, van der Ploeg AT, Laforêt P, van der Beek NAME.

Neurology. 2019 Oct 16. pii: 10.1212/WNL.0000000000008441. doi: 10.1212/WNL.0000000000008441. [Epub ahead of print]

PMID:
31619483
2.

The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease.

Kuperus E, van der Meijden JC, In 't Groen SLM, Kroos MA, Hoogeveen-Westerveld M, Rizopoulos D, Martinez MYN, Kruijshaar ME, van Doorn PA, van der Beek NAME, van der Ploeg AT, Pijnappel WWMP.

PLoS One. 2018 Dec 7;13(12):e0208854. doi: 10.1371/journal.pone.0208854. eCollection 2018.

3.

Association of Muscle Strength and Walking Performance in Adult Patients With Pompe Disease.

Favejee MM, van der Meijden JC, Kruijshaar ME, Rizopoulos D, van der Ploeg AT, Bussmann JBJ.

Phys Ther. 2018 Nov 1;98(11):925-931. doi: 10.1093/ptj/pzy090.

4.

Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients.

van der Meijden JC, Kruijshaar ME, Rizopoulos D, van Doorn PA, van der Beek NAME, van der Ploeg AT.

Orphanet J Rare Dis. 2018 May 22;13(1):82. doi: 10.1186/s13023-018-0824-4.

5.

Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy.

van der Meijden JC, Kruijshaar ME, Harlaar L, Rizopoulos D, van der Beek NAME, van der Ploeg AT.

J Inherit Metab Dis. 2018 Nov;41(6):1205-1214. doi: 10.1007/s10545-018-0166-3. Epub 2018 Mar 19.

6.

Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in adult patients with Pompe disease.

Kanters TA, van der Ploeg AT, Kruijshaar ME, Rizopoulos D, Redekop WK, Rutten-van Mӧlken MPMH, Hakkaart-van Roijen L.

Orphanet J Rare Dis. 2017 Dec 13;12(1):179. doi: 10.1186/s13023-017-0731-0.

7.

Long-term benefit of enzyme replacement therapy in Pompe disease: A 5-year prospective study.

Kuperus E, Kruijshaar ME, Wens SCA, de Vries JM, Favejee MM, van der Meijden JC, Rizopoulos D, Brusse E, van Doorn PA, van der Ploeg AT, van der Beek NAME.

Neurology. 2017 Dec 5;89(23):2365-2373. doi: 10.1212/WNL.0000000000004711. Epub 2017 Nov 8.

PMID:
29117951
8.

Response to Herbert et al.

de Vries JM, Kuperus E, Hoogeveen-Westerveld M, Kroos MA, Wens SCA, Stok M, van der Beek NAME, Kruijshaar ME, Rizopoulos D, van Doorn PA, van der Ploeg AT, Pijnappel WWMP.

Genet Med. 2017 Nov;19(11):1283-1284. doi: 10.1038/gim.2017.49. Epub 2017 Jun 29. No abstract available.

PMID:
28661488
9.

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience.

van der Ploeg AT, Kruijshaar ME, Toscano A, Laforêt P, Angelini C, Lachmann RH, Pascual Pascual SI, Roberts M, Rösler K, Stulnig T, van Doorn PA, Van den Bergh PYK, Vissing J, Schoser B; European Pompe Consortium.

Eur J Neurol. 2017 Jun;24(6):768-e31. doi: 10.1111/ene.13285. Epub 2017 May 6. Review.

PMID:
28477382
10.

Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy.

de Vries JM, Kuperus E, Hoogeveen-Westerveld M, Kroos MA, Wens SC, Stok M, van der Beek NA, Kruijshaar ME, Rizopoulos D, van Doorn PA, van der Ploeg AT, Pijnappel WW.

Genet Med. 2017 Jan;19(1):90-97. doi: 10.1038/gim.2016.70. Epub 2016 Jun 30.

PMID:
27362911
11.

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

Wiltink RC, Kruijshaar ME, van Minkelen R, Onkenhout W, Verheijen FW, Kemper EA, van Spronsen FJ, van der Ploeg AT, Niezen-Koning KE, Saris JJ, Williams M.

Eur J Hum Genet. 2016 Oct;24(10):1424-9. doi: 10.1038/ejhg.2016.65. Epub 2016 Jun 22.

12.

Minutes of the European POmpe Consortium (EPOC) Meeting March 27 to 28, 2015, Munich, Germany.

Schoser B, Laforêt P, Kruijshaar ME, Toscano A, van Doorn PA, van der Ploeg AT; European POmpe Consortium (EPOC).

Acta Myol. 2015 Dec;34(2-3):141-3. No abstract available.

13.

Elevated Plasma Cardiac Troponin T Levels Caused by Skeletal Muscle Damage in Pompe Disease.

Wens SC, Schaaf GJ, Michels M, Kruijshaar ME, van Gestel TJ, In 't Groen S, Pijnenburg J, Dekkers DH, Demmers JA, Verdijk LB, Brusse E, van Schaik RH, van der Ploeg AT, van Doorn PA, Pijnappel WW.

Circ Cardiovasc Genet. 2016 Feb;9(1):6-13. doi: 10.1161/CIRCGENETICS.115.001322. Epub 2016 Jan 19.

PMID:
26787432
14.

Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up.

Güngör D, Kruijshaar ME, Plug I, Rizopoulos D, Kanters TA, Wens SC, Reuser AJ, van Doorn PA, van der Ploeg AT.

J Inherit Metab Dis. 2016 Mar;39(2):253-60. doi: 10.1007/s10545-015-9889-6. Epub 2015 Nov 3.

15.

A conceptual disease model for adult Pompe disease.

Kanters TA, Redekop WK, Rutten-Van Mölken MP, Kruijshaar ME, Güngör D, van der Ploeg AT, Hakkaart L.

Orphanet J Rare Dis. 2015 Sep 15;10:112. doi: 10.1186/s13023-015-0334-6.

16.

Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training program.

van den Berg LE, Favejee MM, Wens SC, Kruijshaar ME, Praet SF, Reuser AJ, Bussmann JB, van Doorn PA, van der Ploeg AT.

Orphanet J Rare Dis. 2015 Jul 19;10:87. doi: 10.1186/s13023-015-0303-0.

17.

208th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26-28 September 2014.

Schoser B, Laforêt P, Kruijshaar ME, Toscano A, van Doorn PA, van der Ploeg AT; European Pompe Consortium (EPOC).

Neuromuscul Disord. 2015 Aug;25(8):674-8. doi: 10.1016/j.nmd.2015.04.006. Epub 2015 Apr 21. No abstract available.

PMID:
25998612
18.

Lung MRI and impairment of diaphragmatic function in Pompe disease.

Wens SC, Ciet P, Perez-Rovira A, Logie K, Salamon E, Wielopolski P, de Bruijne M, Kruijshaar ME, Tiddens HA, van Doorn PA, van der Ploeg AT.

BMC Pulm Med. 2015 May 6;15:54. doi: 10.1186/s12890-015-0058-3.

19.

Risk factors for the misdiagnosis of tuberculosis in the UK, 2001-2011.

Pedrazzoli D, Abubakar I, Potts H, Hunter PR, Kruijshaar ME, Kon OM, Southern J.

Eur Respir J. 2015 Aug;46(2):564-7. doi: 10.1183/09031936.00227914. Epub 2015 Apr 16. No abstract available.

20.

Impact of TB on the survival of people living with HIV infection in England, Wales and Northern Ireland.

Zenner D, Abubakar I, Conti S, Gupta RK, Yin Z, Kall M, Kruijshaar M, Rice B, Thomas HL, Pozniak A, Lipman M, Delpech V.

Thorax. 2015 Jun;70(6):566-73. doi: 10.1136/thoraxjnl-2014-206452. Epub 2015 Mar 24.

PMID:
25805209
21.

Quality of Life and Participation in the Daily Life (Activities) of Adults with Pompe Disease Receiving Enzyme Replacement Therapy: 10 Years of International Follow-Up.

Güngör D, Kruijshaar ME, Plug I, Rizopoulos D, Kanters TA, Wens SC, Reuser AJ, van Doorn PA, van der Ploeg AT.

J Neuromuscul Dis. 2015;2(s1):S63. No abstract available.

PMID:
27858652
22.

Cine-MRI as a New Tool to Evaluate Diaphragmatic Dysfunction in Pompe Disease.

Wens SC, Ciet P, Perez-Rovira A, Logie K, Salamon E, Wielopolski P, de Bruijne M, Kruijshaar ME, Tiddens HW, van der Beek NA, van Doorn PA, van der Ploeg AT.

J Neuromuscul Dis. 2015;2(s1):S57. No abstract available.

PMID:
27858648
23.

Ten Years of the International Pompe Survey: Patient-Reported Outcomes as a Reliable Tool for Studying Treated and Untreated Children and Adults with Non-Classic Pompe Disease.

van der Meijden JC, Güngör D, Kruijshaar ME, Muir AD, Broekgaarden HA, van der Ploeg AT.

J Neuromuscul Dis. 2015;2(s1):S35. No abstract available.

PMID:
27858630
24.

Exercise training in adults with Pompe disease: the effects on pain, fatigue, and functioning.

Favejee MM, van den Berg LE, Kruijshaar ME, Wens SC, Praet SF, Pim Pijnappel WW, van Doorn PA, Bussmann JB, van der Ploeg AT.

Arch Phys Med Rehabil. 2015 May;96(5):817-22. doi: 10.1016/j.apmr.2014.11.020. Epub 2014 Dec 11.

PMID:
25499687
25.

Comparison of EQ-5D and SF-6D utilities in Pompe disease.

Kanters TA, Redekop WK, Kruijshaar ME, van der Ploeg AT, Rutten-van Mölken MP, Hakkaart L.

Qual Life Res. 2015 Apr;24(4):837-44. doi: 10.1007/s11136-014-0833-2. Epub 2014 Oct 24.

PMID:
25342117
26.

Ten years of the international Pompe survey: patient reported outcomes as a reliable tool for studying treated and untreated children and adults with non-classic Pompe disease.

van der Meijden JC, Güngör D, Kruijshaar ME, Muir AD, Broekgaarden HA, van der Ploeg AT.

J Inherit Metab Dis. 2015 May;38(3):495-503. doi: 10.1007/s10545-014-9751-2. Epub 2014 Aug 12.

PMID:
25112389
27.

Pain in adult patients with Pompe disease.

Karabul N, Kruijshaar ME, Schober A, Güngör D, Hanisch F.

Mol Genet Metab Rep. 2014 Apr 2;1:139-140. eCollection 2014. No abstract available.

28.

Increased aortic stiffness and blood pressure in non-classic Pompe disease.

Wens SC, Kuperus E, Mattace-Raso FU, Kruijshaar ME, Brusse E, van Montfort KC, de Boer MS, Sijbrands EJ, van der Ploeg AT, van Doorn PA.

J Inherit Metab Dis. 2014 May;37(3):391-7. doi: 10.1007/s10545-013-9667-2. Epub 2014 Jan 10.

29.

Phenotypical variation within 22 families with Pompe disease.

Wens SC, van Gelder CM, Kruijshaar ME, de Vries JM, van der Beek NA, Reuser AJ, van Doorn PA, van der Ploeg AT, Brusse E.

Orphanet J Rare Dis. 2013 Nov 19;8:182. doi: 10.1186/1750-1172-8-182.

30.

Pain in adult patients with Pompe disease: a cross-sectional survey.

Güngör D, Schober AK, Kruijshaar ME, Plug I, Karabul N, Deschauer M, van Doorn PA, van der Ploeg AT, Schoser B, Hanisch F.

Mol Genet Metab. 2013 Aug;109(4):371-6. doi: 10.1016/j.ymgme.2013.05.021. Epub 2013 Jun 7.

PMID:
23849261
31.

Migration and tuberculosis in the UK: targeting screening for latent infection to those at greatest risk of disease.

Kruijshaar ME, Abubakar I, Stagg HR, Pedrazzoli D, Lipman M.

Thorax. 2013 Dec;68(12):1172-4. doi: 10.1136/thoraxjnl-2013-203254. Epub 2013 Jul 4.

PMID:
23828120
32.

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
33.

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.

34.

Decreasing incidence of tuberculosis among heterosexuals living with diagnosed HIV in England and Wales.

Rice B, Elford J, Yin Z, Kruijshaar M, Abubakar I, Lipman M, Pozniak A, Kall M, Delpech V.

AIDS. 2013 Apr 24;27(7):1151-7. doi: 10.1097/QAD.0b013e32835e2cb1.

PMID:
23276802
35.

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 J Rare Dis. 2012 Sep 26;7:73. doi: 10.1186/1750-1172-7-73.

36.

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

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

Mol Genet Metab. 2012 Sep;107(1-2):111-5. doi: 10.1016/j.ymgme.2012.07.014. Epub 2012 Jul 20.

PMID:
22901700
37.

Factors associated with being lost to follow-up before completing tuberculosis treatment: analysis of surveillance data.

Millett ER, Noel D, Mangtani P, Abubakar I, Kruijshaar ME.

Epidemiol Infect. 2013 Jun;141(6):1223-31. doi: 10.1017/S095026881200163X. Epub 2012 Jul 30.

38.

Evidence for a national problem: continued rise in tuberculosis case numbers in urban areas outside London.

Kruijshaar ME, Abubakar I, Dedicoat M, Bothamley GH, Maguire H, Moore J, Crofts J, Lipman M.

Thorax. 2012 Mar;67(3):275-7. doi: 10.1136/thoraxjnl-2011-200850. Epub 2012 Jan 10.

PMID:
22234727
39.

Risk of tuberculosis in pregnancy: a national, primary care-based cohort and self-controlled case series study.

Zenner D, Kruijshaar ME, Andrews N, Abubakar I.

Am J Respir Crit Care Med. 2012 Apr 1;185(7):779-84. doi: 10.1164/rccm.201106-1083OC. Epub 2011 Dec 8.

PMID:
22161161
40.

Tuberculosis in UK cities: workload and effectiveness of tuberculosis control programmes.

Bothamley GH, Kruijshaar ME, Kunst H, Woltmann G, Cotton M, Saralaya D, Woodhead MA, Watson JP, Chapman AL.

BMC Public Health. 2011 Nov 28;11:896. doi: 10.1186/1471-2458-11-896.

41.

Tuberculosis and HIV co-infection in healthcare workers in England and Wales, 1999-2005.

Crofts JP, Kruijshaar ME, Delpech V, Ncube F, Abubakar I.

Epidemiol Infect. 2012 Oct;140(10):1873-9. doi: 10.1017/S0950268811002445. Epub 2011 Nov 25.

PMID:
22117103
42.

Tuberculosis and HIV co-infection in European Union and European Economic Area countries.

Pimpin L, Drumright LN, Kruijshaar ME, Abubakar I, Rice B, Delpech V, Hollo V, Amato-Gauci A, Manissero D, Ködmön C.

Eur Respir J. 2011 Dec;38(6):1382-92. doi: 10.1183/09031936.00198410. Epub 2011 Jul 7. Review.

43.

The burden of TB-HIV in the EU: how much do we know? A survey of surveillance practices and results.

Kruijshaar ME, Pimpin L, Abubakar I, Rice B, Delpech V, Drumright LN, Hollo V, Huitric E, van de Laar M, Amato-Gauci A, Manissero D, Ködmön C.

Eur Respir J. 2011 Dec;38(6):1374-81. doi: 10.1183/09031936.00198310. Epub 2011 Jun 30.

44.

Increasing reports of non-tuberculous mycobacteria in England, Wales and Northern Ireland, 1995-2006.

Moore JE, Kruijshaar ME, Ormerod LP, Drobniewski F, Abubakar I.

BMC Public Health. 2010 Oct 15;10:612. doi: 10.1186/1471-2458-10-612.

45.

Predictors of failure to complete tuberculosis treatment in London, 2003-2006.

Cegolon L, Maguire H, Mastrangelo G, Carless J, Kruijshaar ME, Verlander NQ.

Int J Tuberc Lung Dis. 2010 Nov;14(11):1411-7. Erratum in: Int J Tuberc Lung Dis. 2011 Mar;15(3):426.

PMID:
20937180
46.

Health status of UK patients with active tuberculosis.

Kruijshaar ME, Lipman M, Essink-Bot ML, Lozewicz S, Creer D, Dart S, Maguire H, Abubakar I.

Int J Tuberc Lung Dis. 2010 Mar;14(3):296-302.

PMID:
20132620
47.

Increase in extrapulmonary tuberculosis in England and Wales 1999-2006.

Kruijshaar ME, Abubakar I.

Thorax. 2009 Dec;64(12):1090-5. doi: 10.1136/thx.2009.118133. Epub 2009 Oct 22.

PMID:
19850965
48.

A labelled discrete choice experiment adds realism to the choices presented: preferences for surveillance tests for Barrett esophagus.

Kruijshaar ME, Essink-Bot ML, Donkers B, Looman CW, Siersema PD, Steyerberg EW.

BMC Med Res Methodol. 2009 May 19;9:31. doi: 10.1186/1471-2288-9-31.

49.

Extensively drug-resistant tuberculosis in the UK: 1995 to 2007.

Abubakar I, Moore J, Drobniewski F, Kruijshaar M, Brown T, Yates M, Anderson C, Smith EG, Magee J, Lipman M, McMenamin J, Ruddy M, Watson JM.

Thorax. 2009 Jun;64(6):512-5. doi: 10.1136/thx.2008.108712. Epub 2009 Mar 23.

PMID:
19318348
50.

The influence of socio-economic deprivation on tuberculosis treatment delays in England, 2000-2005.

French CE, Kruijshaar ME, Jones JA, Abubakar I.

Epidemiol Infect. 2009 Apr;137(4):591-6. doi: 10.1017/S0950268808001118. Epub 2008 Aug 8.

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