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Items: 47

1.

Oncologic orphan drugs approved in the EU - do clinical trial data correspond with real-world effectiveness?

Schuller Y, Biegstraaten M, Hollak CEM, Klümpen HJ, Gispen-de Wied CC, Stoyanova-Beninska V.

Orphanet J Rare Dis. 2018 Nov 28;13(1):214. doi: 10.1186/s13023-018-0900-9.

2.

Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study.

Arends M, Biegstraaten M, Wanner C, Sirrs S, Mehta A, Elliott PM, Oder D, Watkinson OT, Bichet DG, Khan A, Iwanochko M, Vaz FM, van Kuilenburg ABP, West ML, Hughes DA, Hollak CEM.

J Med Genet. 2018 May;55(5):351-358. doi: 10.1136/jmedgenet-2017-104863. Epub 2018 Feb 7.

3.

Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study.

Arends M, Körver S, Hughes DA, Mehta A, Hollak CEM, Biegstraaten M.

J Inherit Metab Dis. 2018 Jan;41(1):141-149. doi: 10.1007/s10545-017-0095-6. Epub 2017 Oct 16.

4.

Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors.

Arends M, Biegstraaten M, Hughes DA, Mehta A, Elliott PM, Oder D, Watkinson OT, Vaz FM, van Kuilenburg ABP, Wanner C, Hollak CEM.

PLoS One. 2017 Aug 1;12(8):e0182379. doi: 10.1371/journal.pone.0182379. eCollection 2017.

5.

Factors Contributing to the Efficacy-Effectiveness Gap in the Case of Orphan Drugs for Metabolic Diseases.

Schuller Y, Hollak CEM, Gispen-de Wied CC, Stoyanova-Beninska V, Biegstraaten M.

Drugs. 2017 Sep;77(13):1461-1472. doi: 10.1007/s40265-017-0788-z.

6.

Hearing loss in children with Fabry disease.

Suntjens E, Dreschler WA, Hess-Erga J, Skrunes R, Wijburg FA, Linthorst GE, Tøndel C, Biegstraaten M.

J Inherit Metab Dis. 2017 Sep;40(5):725-731. doi: 10.1007/s10545-017-0051-5. Epub 2017 May 31.

7.

Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease.

Arends M, Wijburg FA, Wanner C, Vaz FM, van Kuilenburg ABP, Hughes DA, Biegstraaten M, Mehta A, Hollak CEM, Langeveld M.

Mol Genet Metab. 2017 Jun;121(2):157-161. doi: 10.1016/j.ymgme.2017.05.001. Epub 2017 May 4.

PMID:
28495078
8.

Biceps Rerouting after Forearm Osteotomy: An Effective Treatment Strategy for Severe Supination Deformity in Obstetric Plexus Palsy.

Metsaars WP, Biegstraaten M, Nelissen RGHH.

J Hand Microsurg. 2017 Apr;9(1):1-5. doi: 10.1055/s-0037-1598088. Epub 2017 Feb 7.

9.

Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease.

Biegstraaten M, Cox TM, Belmatoug N, Berger MG, Collin-Histed T, Vom Dahl S, Di Rocco M, Fraga C, Giona F, Giraldo P, Hasanhodzic M, Hughes DA, Iversen PO, Kiewiet AI, Lukina E, Machaczka M, Marinakis T, Mengel E, Pastores GM, Plöckinger U, Rosenbaum H, Serratrice C, Symeonidis A, Szer J, Timmerman J, Tylki-Szymańska A, Weisz Hubshman M, Zafeiriou DI, Zimran A, Hollak CEM.

Blood Cells Mol Dis. 2018 Feb;68:203-208. doi: 10.1016/j.bcmd.2016.10.008. Epub 2016 Oct 24.

10.

Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.

Arends M, Wanner C, Hughes D, Mehta A, Oder D, Watkinson OT, Elliott PM, Linthorst GE, Wijburg FA, Biegstraaten M, Hollak CE.

J Am Soc Nephrol. 2017 May;28(5):1631-1641. doi: 10.1681/ASN.2016090964. Epub 2016 Dec 15.

11.

Erratum to: Pain management strategies for neuropathic pain in Fabry disease - a systematic review.

Schuller Y, Linthorst GE, Hollak CE, Van Schaik IN, Biegstraaten M.

BMC Neurol. 2016 May 16;16:67. doi: 10.1186/s12883-016-0590-7. No abstract available.

12.

Pain management strategies for neuropathic pain in Fabry disease--a systematic review.

Schuller Y, Linthorst GE, Hollak CE, Van Schaik IN, Biegstraaten M.

BMC Neurol. 2016 Feb 24;16:25. doi: 10.1186/s12883-016-0549-8. Review. Erratum in: BMC Neurol. 2016;16:67.

13.

Post-authorisation assessment of orphan drugs.

Hollak CE, Biegstraaten M, Levi M, Hagendijk R.

Lancet. 2015 Nov 14;386(10007):1940-1. doi: 10.1016/S0140-6736(15)00827-2. Epub 2015 Nov 13. No abstract available.

PMID:
26841744
14.

Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.

Hollak CE, Biegstraaten M, Baumgartner MR, Belmatoug N, Bembi B, Bosch A, Brouwers M, Dekker H, Dobbelaere D, Engelen M, Groenendijk MC, Lachmann R, Langendonk JG, Langeveld M, Linthorst G, Morava E, Poll-The BT, Rahman S, Rubio-Gozalbo ME, Spiekerkoetter U, Treacy E, Wanders R, Zschocke J, Hagendijk R.

Orphanet J Rare Dis. 2016 Jan 25;11:7. doi: 10.1186/s13023-016-0383-5.

15.

Discontinuation of enzyme replacement therapy in Fabry disease in the Dutch cohort.

Arends M, Linthorst GE, Hollak CE, Biegstraaten M.

Mol Genet Metab. 2016 Feb;117(2):194-8. doi: 10.1016/j.ymgme.2015.11.014. Epub 2015 Dec 1.

PMID:
26654842
16.

In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease.

van der Tol L, Verhamme C, van Schaik IN, van der Kooi AJ, Hollak CE, Biegstraaten M.

JIMD Rep. 2016;28:95-103. Epub 2015 Nov 14.

17.

The quality of economic evaluations of ultra-orphan drugs in Europe - a systematic review.

Schuller Y, Hollak CE, Biegstraaten M.

Orphanet J Rare Dis. 2015 Jul 30;10:92. doi: 10.1186/s13023-015-0305-y. Review.

18.

Quality of life in patients with Fabry disease: a systematic review of the literature.

Arends M, Hollak CE, Biegstraaten M.

Orphanet J Rare Dis. 2015 Jun 16;10:77. doi: 10.1186/s13023-015-0296-8. Review.

19.

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.

Biegstraaten M, Arngrímsson R, Barbey F, Boks L, Cecchi F, Deegan PB, Feldt-Rasmussen U, Geberhiwot T, Germain DP, Hendriksz C, Hughes DA, Kantola I, Karabul N, Lavery C, Linthorst GE, Mehta A, van de Mheen E, Oliveira JP, Parini R, Ramaswami U, Rudnicki M, Serra A, Sommer C, Sunder-Plassmann G, Svarstad E, Sweeb A, Terryn W, Tylki-Szymanska A, Tøndel C, Vujkovac B, Weidemann F, Wijburg FA, Woolfson P, Hollak CE.

Orphanet J Rare Dis. 2015 Mar 27;10:36. doi: 10.1186/s13023-015-0253-6.

20.

Cornea verticillata supports a diagnosis of Fabry disease in non-classical phenotypes: results from the Dutch cohort and a systematic review.

van der Tol L, Sminia ML, Hollak CE, Biegstraaten M.

Br J Ophthalmol. 2016 Jan;100(1):3-8. doi: 10.1136/bjophthalmol-2014-306433. Epub 2015 Feb 12. Review.

PMID:
25677671
21.

Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.

Smid BE, van der Tol L, Biegstraaten M, Linthorst GE, Hollak CE, Poorthuis BJ.

J Med Genet. 2015 Apr;52(4):262-8. doi: 10.1136/jmedgenet-2014-102872. Epub 2015 Jan 16.

PMID:
25596309
22.

Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance.

Smid BE, van der Tol L, Cecchi F, Elliott PM, Hughes DA, Linthorst GE, Timmermans J, Weidemann F, West ML, Biegstraaten M, Lekanne Deprez RH, Florquin S, Postema PG, Tomberli B, van der Wal AC, van den Bergh Weerman MA, Hollak CE.

Int J Cardiol. 2014 Dec 15;177(2):400-8. doi: 10.1016/j.ijcard.2014.09.001. Epub 2014 Sep 20. Review.

PMID:
25442977
23.

Hearing loss in adult patients with Fabry disease treated with enzyme replacement therapy.

Suntjens EB, Smid BE, Biegstraaten M, Dreschler WA, Hollak CE, Linthorst GE.

J Inherit Metab Dis. 2015 Mar;38(2):351-8. doi: 10.1007/s10545-014-9783-7. Epub 2014 Nov 14.

PMID:
25395255
24.

Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up.

van der Tol L, Cassiman D, Houge G, Janssen MC, Lachmann RH, Linthorst GE, Ramaswami U, Sommer C, Tøndel C, West ML, Weidemann F, Wijburg FA, Svarstad E, Hollak CE, Biegstraaten M.

JIMD Rep. 2014;17:83-90. doi: 10.1007/8904_2014_342. Epub 2014 Sep 16.

25.

Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis.

van der Tol L, Svarstad E, Ortiz A, Tøndel C, Oliveira JP, Vogt L, Waldek S, Hughes DA, Lachmann RH, Terryn W, Hollak CE, Florquin S, van den Bergh Weerman MA, Wanner C, West ML, Biegstraaten M, Linthorst GE.

Mol Genet Metab. 2015 Feb;114(2):242-7. doi: 10.1016/j.ymgme.2014.08.007. Epub 2014 Aug 20.

PMID:
25187469
26.

Modelling Gaucher disease progression: long-term enzyme replacement therapy reduces the incidence of splenectomy and bone complications.

van Dussen L, Biegstraaten M, Dijkgraaf MG, Hollak CE.

Orphanet J Rare Dis. 2014 Jul 24;9:112. doi: 10.1186/s13023-014-0112-x.

27.

Cost-effectiveness of enzyme replacement therapy for type 1 Gaucher disease.

van Dussen L, Biegstraaten M, Hollak CE, Dijkgraaf MG.

Orphanet J Rare Dis. 2014 Apr 14;9:51. doi: 10.1186/1750-1172-9-51.

28.

Fabry disease: a rare cause of neuropathic pain.

Biegstraaten M, Linthorst GE, van Schaik IN, Hollak CE.

Curr Pain Headache Rep. 2013 Oct;17(10):365. doi: 10.1007/s11916-013-0365-4. Review.

PMID:
23996721
29.

A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance.

van der Tol L, Smid BE, Poorthuis BJ, Biegstraaten M, Deprez RH, Linthorst GE, Hollak CE.

J Med Genet. 2014 Jan;51(1):1-9. doi: 10.1136/jmedgenet-2013-101857. Epub 2013 Aug 6. Review.

PMID:
23922385
30.

Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature.

Arends M, van Dussen L, Biegstraaten M, Hollak CE.

Br J Haematol. 2013 Jun;161(6):832-42. doi: 10.1111/bjh.12335. Epub 2013 Apr 18. Review.

PMID:
23594419
31.

FabryScan: a screening tool for early detection of Fabry disease.

Arning K, Naleschinski D, Maag R, Biegstraaten M, Kropp P, Lorenzen J, Hollak CE, van Schaik IN, Harten P, Zeuner RA, Binder A, Baron R.

J Neurol. 2012 Nov;259(11):2393-400. doi: 10.1007/s00415-012-6619-y. Epub 2012 Aug 10.

PMID:
22878429
32.

Small fiber neuropathy in Fabry disease.

Biegstraaten M, Hollak CE, Bakkers M, Faber CG, Aerts JM, van Schaik IN.

Mol Genet Metab. 2012 Jun;106(2):135-41. doi: 10.1016/j.ymgme.2012.03.010. Epub 2012 Mar 24. Review.

PMID:
22497776
33.

The cognitive profile of type 1 Gaucher disease patients.

Biegstraaten M, Wesnes KA, Luzy C, Petakov M, Mrsic M, Niederau C, Giraldo P, Hughes D, Mehta A, Mengel KE, Hollak CE, Maródi L, van Schaik IN.

J Inherit Metab Dis. 2012 Nov;35(6):1093-9. doi: 10.1007/s10545-012-9460-7. Epub 2012 Feb 21.

34.

The relation between small nerve fibre function, age, disease severity and pain in Fabry disease.

Biegstraaten M, Binder A, Maag R, Hollak CE, Baron R, van Schaik IN.

Eur J Pain. 2011 Sep;15(8):822-9. doi: 10.1016/j.ejpain.2011.01.014. Epub 2011 Feb 22.

PMID:
21334933
35.

Poikilothermia in a 38-year-old Fabry patient.

Biegstraaten M, van Schaik IN, Hollak CE, Wieling W, Linthorst GE.

Clin Auton Res. 2011 Jun;21(3):177-9. doi: 10.1007/s10286-010-0101-7. Epub 2010 Dec 15.

36.

A monozygotic twin pair with highly discordant Gaucher phenotypes.

Biegstraaten M, van Schaik IN, Aerts JM, Langeveld M, Mannens MM, Bour LJ, Sidransky E, Tayebi N, Fitzgibbon E, Hollak CE.

Blood Cells Mol Dis. 2011 Jan 15;46(1):39-41. doi: 10.1016/j.bcmd.2010.10.007. Epub 2010 Nov 5.

37.

Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational study.

Biegstraaten M, Mengel E, Maródi L, Petakov M, Niederau C, Giraldo P, Hughes D, Mrsic M, Mehta A, Hollak CE, van Schaik IN.

Brain. 2010 Oct;133(10):2909-19. doi: 10.1093/brain/awq198. Epub 2010 Aug 7.

PMID:
20693542
38.

Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests.

Biegstraaten M, van Schaik IN, Wieling W, Wijburg FA, Hollak CE.

BMC Neurol. 2010 Jun 7;10:38. doi: 10.1186/1471-2377-10-38.

39.

'Non-neuronopathic' Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature.

Biegstraaten M, van Schaik IN, Aerts JM, Hollak CE.

J Inherit Metab Dis. 2008 Jun;31(3):337-49. doi: 10.1007/s10545-008-0832-y. Epub 2008 Apr 4. Review.

PMID:
18404411
40.

[Pregabalin in the treatment of neuropathic pain].

Biegstraaten M, van Schaik IN.

Ned Tijdschr Geneeskd. 2007 Jul 14;151(28):1561-5. Review. Dutch.

PMID:
17715763
41.

Grasping the Müller-Lyer illusion: not a change in perceived length.

Biegstraaten M, de Grave DD, Brenner E, Smeets JB.

Exp Brain Res. 2007 Jan;176(3):497-503. Epub 2006 Dec 5.

PMID:
17146650
42.

The relation between force and movement when grasping an object with a precision grip.

Biegstraaten M, Smeets JB, Brenner E.

Exp Brain Res. 2006 May;171(3):347-57. Epub 2005 Nov 24.

PMID:
16307243
43.

Effects of the Ebbinghaus figure on grasping are not only due to misjudged size.

de Grave DD, Biegstraaten M, Smeets JB, Brenner E.

Exp Brain Res. 2005 May;163(1):58-64. Epub 2005 Mar 22.

PMID:
15782350
44.

Impact forces cannot explain the one-target advantage in rapid aimed hand movements.

Biegstraaten M, Smeets JB, Brenner E.

Hum Mov Sci. 2003 Aug;22(3):365-76.

PMID:
12967763
45.

The influence of obstacles on the speed of grasping.

Biegstraaten M, Smeets JB, Brenner E.

Exp Brain Res. 2003 Apr;149(4):530-4. Epub 2003 Mar 4.

PMID:
12677335
46.

Independent control of the digits predicts an apparent hierarchy of visuomotor channels in grasping.

Smeets JB, Brenner E, Biegstraaten M.

Behav Brain Res. 2002 Nov 15;136(2):427-32. Review.

PMID:
12429404
47.

Determining the optimal flexion-extension axis of the elbow in vivo - a study of interobserver and intraobserver reliability.

Stokdijk M, Biegstraaten M, Ormel W, de Boer YA, Veeger HE, Rozing PM.

J Biomech. 2000 Sep;33(9):1139-45.

PMID:
10854888

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