Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Marieke Biegstraaten"'
Autor:
Yvonne Schuller, Marieke Biegstraaten, Carla E. M. Hollak, Heinz-Josef Klümpen, Christine C. Gispen-de Wied, Violeta Stoyanova-Beninska
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-11 (2018)
Abstract Background Evaluation of evidence for efficacy of orphan medicinal products (OMPs) for rare malignancies may be hampered by the use of tumor measurements instead of clinical endpoints. This may cause efficacy data to not always match effecti
Externí odkaz:
https://doaj.org/article/54c1406d95344772a624b2f11cf50998
Autor:
Maarten Arends, Marieke Biegstraaten, Derralynn A Hughes, Atul Mehta, Perry M Elliott, Daniel Oder, Oliver T Watkinson, Frédéric M Vaz, André B P van Kuilenburg, Christoph Wanner, Carla E M Hollak
Publikováno v:
PLoS ONE, Vol 12, Iss 8, p e0182379 (2017)
Despite enzyme replacement therapy, disease progression is observed in patients with Fabry disease. Identification of factors that predict disease progression is needed to refine guidelines on initiation and cessation of enzyme replacement therapy. T
Externí odkaz:
https://doaj.org/article/ea56d1ada2864a8fb3f8dce736ad5be2
Autor:
Mark R. Iwanochko, Sandra Sirrs, Michael West, Perry M. Elliott, Frédéric M. Vaz, Marieke Biegstraaten, Maarten Arends, Christoph Wanner, Derralynn Hughes, Oliver Watkinson, Carla E. M. Hollak, André B.P. van Kuilenburg, Atul Mehta, Aneal Khan, Daniel G. Bichet, Daniel Oder
Publikováno v:
Journal of Medical Genetics
Journal of medical genetics, 55, 351-358. BMJ Publishing Group
Journal of medical genetics, 55, 351-358. BMJ Publishing Group
BackgroundTwo recombinant enzymes (agalsidase alfa 0.2 mg/kg/every other week and agalsidase beta 1.0 mg/kg/every other week) have been registered for the treatment of Fabry disease (FD), at equal high costs. An independent international initiative c
Autor:
M. Weisz Hubshman, C.E.M. Hollak, Marc G. Berger, Theodore Marinakis, Fiorina Giona, Ursula Plöckinger, Hanna Rosenbaum, Marieke Biegstraaten, Gregory M. Pastores, J. Timmerman, Tanya Collin-Histed, Eugen Mengel, Dimitrios I. Zafeiriou, Cristina Fraga, M. Di Rocco, Ari Zimran, Nadia Belmatoug, Per Ole Iversen, Argiris Symeonidis, Derralynn Hughes, Anna Tylki-Szymańska, Elena Lukina, Jeff Szer, S. vom Dahl, M. Hasanhodzic, P Giraldo, Timothy M. Cox, Christine Serratrice, A.I. Kiewiet, Maciej Machaczka
Publikováno v:
Blood cells, molecules & diseases, 68, 203-208. Academic Press Inc.
Blood Cells, Molecules and Diseases
Blood Cells, Molecules and Diseases, Elsevier, 2018, 68, pp.203-208. ⟨10.1016/j.bcmd.2016.10.008⟩
Blood Cells, Molecules and Diseases
Blood Cells, Molecules and Diseases, Elsevier, 2018, 68, pp.203-208. ⟨10.1016/j.bcmd.2016.10.008⟩
Gaucher Disease type 1 (GD1) is a lysosomal disorder that affects many systems. Therapy improves the principal manifestations of the condition and, as a consequence, many patients show a modified phenotype which reflects manifestations of their disea
Autor:
C. C. Gispen-de Wied, Marieke Biegstraaten, Carla E. M. Hollak, Yvonne Schuller, Violeta Stoyanova-Beninska
Publikováno v:
Drugs
Drugs, 77(13), 1461-1472. Adis International Ltd
Drugs, 77(13), 1461-1472. Adis International Ltd
Introduction Authorization of orphan medicinal products (OMPs) is often based on studies with several methodological shortcomings. Hence, data are difficult to interpret and efficacy does not always correspond to real-world effectiveness. We investig
Autor:
Derralynn Hughes, Mirjam Langeveld, Carla E. M. Hollak, Maarten Arends, Frédéric M. Vaz, André B.P. van Kuilenburg, Christoph Wanner, Frits A. Wijburg, Marieke Biegstraaten, Atul Mehta
Publikováno v:
Molecular genetics and metabolism, 121(2), 157-161. Academic Press Inc.
Background: The level of plasma globotriaosylsphingosine (lysoGb3) is an indication of disease severity in Fabry disease (FD) and its decrease during enzyme replacement therapy could be a reflection of treatment efficacy. Early treatment of FD may im
Autor:
Rannveig Skrunes, Eefje B. Suntjens, Gabor E. Linthorst, Frits A. Wijburg, J. Hess-Erga, Wouter A. Dreschler, Marieke Biegstraaten, Camilla Tøndel
Publikováno v:
Journal of inherited metabolic disease, 40(5), 725-731. Springer Netherlands
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease
Background Hearing loss (HL) is a well-known feature of Fabry disease (FD). Its presence and characteristics have mainly been studied in adult patients, while only limited data are available on the presence and degree of HL in children with FD. This
Autor:
Frits A. Wijburg, Carla E. M. Hollak, Oliver Watkinson, Christoph Wanner, Derralynn Hughes, Atul Mehta, Perry M. Elliott, Gabor E. Linthorst, Maarten Arends, Marieke Biegstraaten, Daniel Oder
Publikováno v:
Journal of the American Society of Nephrology, 28(5), 1631-1641. American Society of Nephrology
Fabry disease leads to renal, cardiac, and cerebrovascular manifestations. Phenotypic differences between classically and nonclassically affected patients are evident, but there are few data on the natural course of classical and nonclassical disease
Autor:
Carla E. M. Hollak, Marieke Biegstraaten, Maarten Arends, Simon Körver, Derralynn Hughes, Atul Mehta
Publikováno v:
Journal of inherited metabolic disease, 41(1), 141-149. Springer Netherlands
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease
Quality of life (QoL) is decreased in patients with Fabry disease (FD). To improve QoL, it is important to understand the influence of FD related characteristics, symptoms, and complications. In this retrospective cohort study we explored the effect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1c5d1840fccac966e5ef323c8675e81
https://pure.amc.nl/en/publications/phenotype-disease-severity-and-pain-are-major-determinants-of-quality-of-life-in-fabry-disease-results-from-a-large-multicenter-cohort-study(a06606bb-42a7-4ecf-8311-89b20d97f011).html
https://pure.amc.nl/en/publications/phenotype-disease-severity-and-pain-are-major-determinants-of-quality-of-life-in-fabry-disease-results-from-a-large-multicenter-cohort-study(a06606bb-42a7-4ecf-8311-89b20d97f011).html
Autor:
Christine C. Gispen-de Wied, Carla E. M. Hollak, Yvonne Schuller, Violeta Stoyanova-Beninska, Heinz-Josef Klümpen, Marieke Biegstraaten
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-11 (2018)
Orphanet journal of rare diseases, 13(1):214. BioMed Central
Orphanet Journal of Rare Diseases, 13(1):214. BioMed Central
Schuller, Y, Biegstraaten, M, Hollak, C E M, Klümpen, H-J, Gispen-de Wied, C C & Stoyanova-Beninska, V 2018, ' Oncologic orphan drugs approved in the EU-Do clinical trial data correspond with real-world effectiveness? ', Orphanet Journal of Rare Diseases, vol. 13, no. 1, 214 . https://doi.org/10.1186/s13023-018-0900-9
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-11 (2018)
Orphanet journal of rare diseases, 13(1):214. BioMed Central
Orphanet Journal of Rare Diseases, 13(1):214. BioMed Central
Schuller, Y, Biegstraaten, M, Hollak, C E M, Klümpen, H-J, Gispen-de Wied, C C & Stoyanova-Beninska, V 2018, ' Oncologic orphan drugs approved in the EU-Do clinical trial data correspond with real-world effectiveness? ', Orphanet Journal of Rare Diseases, vol. 13, no. 1, 214 . https://doi.org/10.1186/s13023-018-0900-9
Background Evaluation of evidence for efficacy of orphan medicinal products (OMPs) for rare malignancies may be hampered by the use of tumor measurements instead of clinical endpoints. This may cause efficacy data to not always match effectiveness in