Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study
Arends, Maarten, Wanner, Christoph, Hughes, Derralynn, Mehta, Atul, Oder, Daniel, Watkinson, Oliver T, Elliott, Perry M, Linthorst, Gabor E, Wijburg, Frits A, Biegstraaten, Marieke, Hollak, Carla E
Published in Journal of the American Society of Nephrology (01.05.2017)
Published in Journal of the American Society of Nephrology (01.05.2017)
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Journal Article
Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors
Arends, Maarten, Biegstraaten, Marieke, Hughes, Derralynn A, Mehta, Atul, Elliott, Perry M, Oder, Daniel, Watkinson, Oliver T, Vaz, Frédéric M, van Kuilenburg, André B P, Wanner, Christoph, Hollak, Carla E M
Published in PloS one (01.08.2017)
Published in PloS one (01.08.2017)
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Journal Article
Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study
Arends, Maarten, Biegstraaten, Marieke, Wanner, Christoph, Sirrs, Sandra, Mehta, Atul, Elliott, Perry M, Oder, Daniel, Watkinson, Oliver T, Bichet, Daniel G, Khan, Aneal, Iwanochko, Mark, Vaz, Frédéric M, van Kuilenburg, André B P, West, Michael L, Hughes, Derralynn A, Hollak, Carla E M
Published in Journal of medical genetics (01.05.2018)
Published in Journal of medical genetics (01.05.2018)
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Journal Article
Oncologic orphan drugs approved in the EU - do clinical trial data correspond with real-world effectiveness?
Schuller, Yvonne, Biegstraaten, Marieke, Hollak, Carla E M, Klümpen, Heinz-Josef, Gispen-de Wied, Christine C, Stoyanova-Beninska, Violeta
Published in Orphanet journal of rare diseases (28.11.2018)
Published in Orphanet journal of rare diseases (28.11.2018)
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Journal Article
Fabry Disease: A Rare Cause of Neuropathic Pain
Biegstraaten, Marieke, Linthorst, Gabor E., van Schaik, Ivo N., Hollak, Carla E. M.
Published in Current pain and headache reports (01.10.2013)
Published in Current pain and headache reports (01.10.2013)
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Journal Article
Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests
Biegstraaten, Marieke, van Schaik, Ivo N, Wieling, Wouter, Wijburg, Frits A, Hollak, Carla E M
Published in BMC neurology (07.06.2010)
Published in BMC neurology (07.06.2010)
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Journal Article
Quality of life in patients with Fabry disease: a systematic review of the literature
Arends, Maarten, Hollak, Carla E M, Biegstraaten, Marieke
Published in Orphanet journal of rare diseases (16.06.2015)
Published in Orphanet journal of rare diseases (16.06.2015)
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Journal Article
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document
Biegstraaten, Marieke, Arngrímsson, Reynir, Barbey, Frederic, Boks, Lut, Cecchi, Franco, Deegan, Patrick B, Feldt-Rasmussen, Ulla, Geberhiwot, Tarekegn, Germain, Dominique P, Hendriksz, Chris, Hughes, Derralynn A, Kantola, Ilkka, Karabul, Nesrin, Lavery, Christine, Linthorst, Gabor E, Mehta, Atul, van de Mheen, Erica, Oliveira, João P, Parini, Rossella, Ramaswami, Uma, Rudnicki, Michael, Serra, Andreas, Sommer, Claudia, Sunder-Plassmann, Gere, Svarstad, Einar, Sweeb, Annelies, Terryn, Wim, Tylki-Szymanska, Anna, Tøndel, Camilla, Vujkovac, Bojan, Weidemann, Frank, Wijburg, Frits A, Woolfson, Peter, Hollak, Carla E M
Published in Orphanet journal of rare diseases (27.03.2015)
Published in Orphanet journal of rare diseases (27.03.2015)
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Journal Article
Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study
Arends, Maarten, Körver, Simon, Hughes, Derralynn A., Mehta, Atul, Hollak, Carla E. M., Biegstraaten, Marieke
Published in Journal of inherited metabolic disease (01.01.2018)
Published in Journal of inherited metabolic disease (01.01.2018)
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Journal Article
Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease
Arends, Maarten, Wijburg, Frits A., Wanner, Christoph, Vaz, Frédéric M., van Kuilenburg, André B.P., Hughes, Derralynn A., Biegstraaten, Marieke, Mehta, Atul, Hollak, Carla E.M., Langeveld, Mirjam
Published in Molecular genetics and metabolism (01.06.2017)
Published in Molecular genetics and metabolism (01.06.2017)
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Journal Article
Cornea verticillata supports a diagnosis of Fabry disease in non-classical phenotypes: results from the Dutch cohort and a systematic review
van der Tol, Linda, Sminia, Marije L, Hollak, Carla E M, Biegstraaten, Marieke
Published in British Journal of Ophthalmology (01.01.2016)
Published in British Journal of Ophthalmology (01.01.2016)
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Journal Article
Book Review
Post-authorisation assessment of orphan drugs
Hollak, Carla E M, Biegstraaten, Marieke, Levi, Marcel, Hagendijk, Rob
Published in The Lancet (British edition) (14.11.2015)
Published in The Lancet (British edition) (14.11.2015)
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Journal Article
Discontinuation of enzyme replacement therapy in Fabry disease in the Dutch cohort
Arends, Maarten, Linthorst, Gabor E., Hollak, Carla E., Biegstraaten, Marieke
Published in Molecular genetics and metabolism (01.02.2016)
Published in Molecular genetics and metabolism (01.02.2016)
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Journal Article
Looking beyond the realm of traditional genetics: DNA methylation differences in discordant Gaucher disease twins
Hassan, Shahzeb, Grey, Richard, Donovan, Frank, Biegstraaten, Marieke, Hollak, Carla, Sidransky, Ellen, Tayebi, Nahid
Published in Molecular genetics and metabolism (01.01.2017)
Published in Molecular genetics and metabolism (01.01.2017)
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Journal Article
Cost-effectiveness of enzyme replacement therapy for type 1 Gaucher disease
van Dussen, Laura, Biegstraaten, Marieke, Hollak, Carla E M, Dijkgraaf, Marcel G W
Published in Orphanet journal of rare diseases (14.04.2014)
Published in Orphanet journal of rare diseases (14.04.2014)
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Journal Article
Small fiber neuropathy in Fabry disease
Biegstraaten, Marieke, Hollak, Carla E.M., Bakkers, Mayienne, Faber, Catharina G., Aerts, Johannes M.F.G., van Schaik, Ivo N.
Published in Molecular genetics and metabolism (01.06.2012)
Published in Molecular genetics and metabolism (01.06.2012)
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Journal Article
Chronic kidney disease and an uncertain diagnosis of Fabry disease: Approach to a correct diagnosis
van der Tol, Linda, Svarstad, Einar, Ortiz, Alberto, Tøndel, Camilla, Oliveira, João Paulo, Vogt, Liffert, Waldek, Stephen, Hughes, Derralynn A., Lachmann, Robin H., Terryn, Wim, Hollak, Carla E., Florquin, Sandrine, van den Bergh Weerman, Marius A., Wanner, Christoph, West, Michael L., Biegstraaten, Marieke, Linthorst, Gabor E.
Published in Molecular genetics and metabolism (01.02.2015)
Published in Molecular genetics and metabolism (01.02.2015)
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Journal Article