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

by Arends, Maarten, Hollak, Carla E. M., Biegstraaten, Marieke
Published in Orphanet J Rare Dis (2015)

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

by van Dussen, Laura, Biegstraaten, Marieke, Hollak, Carla EM, Dijkgraaf, Marcel GW
Published 2014

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

by van Dussen, Laura, Biegstraaten, Marieke, Dijkgraaf, Marcel GW, Hollak, Carla EM
Published in Orphanet J Rare Dis (2014)

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

by Biegstraaten, Marieke, van Schaik, Ivo N, Wieling, Wouter, Wijburg, Frits A, Hollak, Carla EM
Published 2010

Poikilothermia in a 38-year-old Fabry patient

by Biegstraaten, Marieke, van Schaik, Ivo N., Hollak, Carla E. M., Wieling, Wouter, Linthorst, Gabor E.
Published 2010

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

by Arends, Maarten, Körver, Simon, Hughes, Derralynn A., Mehta, Atul, Hollak, Carla E. M., Biegstraaten, Marieke
Published in J Inherit Metab Dis (2017)

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

by Schuller, Yvonne, Biegstraaten, Marieke, Hollak, Carla E. M., Klümpen, Heinz-Josef, Gispen-de Wied, Christine C., Stoyanova-Beninska, Violeta
Published in Orphanet J Rare Dis (2018)

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

by van der Tol, Linda, Verhamme, Camiel, van Schaik, Ivo N., van der Kooi, Anneke J., Hollak, Carla E. M., Biegstraaten, Marieke
Published in JIMD Rep (2015)

Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study

by 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 J Am Soc Nephrol (2017)

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

by 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 (2017)

The cognitive profile of type 1 Gaucher disease patients

by Biegstraaten, Marieke, Wesnes, Keith A., Luzy, Cécile, Petakov, Milan, Mrsic, Mirando, Niederau, Claus, Giraldo, Pilar, Hughes, Derralynn, Mehta, Atul, Mengel, Karl-Eugen, Hollak, Carla E. M, Maródi, László, van Schaik, Ivo N.
Published 2012

Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up

by van der Tol, L., Cassiman, David, Houge, Gunnar, Janssen, Mirian C., Lachmann, Robin H, Linthorst, Gabor E, Ramaswami, Uma, Sommer, Claudia, Tøndel, Camilla, West, Michael L, Weidemann, Frank, Wijburg, Frits A, Svarstad, Einar, Hollak, Carla EM, Biegstraaten, Marieke
Published in JIMD Rep (2014)

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

by 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 J Med Genet (2018)

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

by Hollak, Carla E. M., Biegstraaten, Marieke, Baumgartner, Matthias R., Belmatoug, Nadia, Bembi, Bruno, Bosch, Annet, Brouwers, Martijn, Dekker, Hanka, Dobbelaere, Dries, Engelen, Marc, Groenendijk, Marike C., Lachmann, Robin, Langendonk, Janneke G., Langeveld, Mirjam, Linthorst, Gabor, Morava, Eva, Poll-The, Bwee Tien, Rahman, Shamima, Rubio-Gozalbo, M. Estela, Spiekerkoetter, Ute, Treacy, Eileen, Wanders, Ronald, Zschocke, Johannes, Hagendijk, Rob
Published in Orphanet J Rare Dis (2016)

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

by 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 EM
Published in Orphanet J Rare Dis (2015)